Robert J Desnick

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. ncbi request reprint Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Ann Intern Med 138:338-46. 2003
  2. pmc A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
    Margaret M McGovern
    Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, New York, USA
    Pediatrics 122:e341-9. 2008
  3. pmc Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Box 1497, Mount Sinai School of Medicine, 1428 Madison Avenue, New York, NY 10029, USA
    Pharmacogenomics 13:297-307. 2012
  4. ncbi request reprint Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Hum Mutat 25:299-305. 2005
  5. pmc Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Box 1498, Mount Sinai School of Medicine of New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Pharmacogenomics 11:781-91. 2010
  6. pmc Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    Hum Genomics 2:297-309. 2006
  7. pmc Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation
    Sonia Clavero
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    Mol Med 16:381-8. 2010
  8. ncbi request reprint Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews
    Jianli Dong
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Am J Med Genet 110:253-7. 2002
  9. pmc CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Pharmacogenomics 10:1243-55. 2009
  10. pmc Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes
    Manisha Balwani
    Comprehensive Gaucher Disease Treatment Center, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Arch Intern Med 170:1463-9. 2010

Detail Information

Publications83

  1. ncbi request reprint Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Ann Intern Med 138:338-46. 2003
    ....
  2. pmc A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
    Margaret M McGovern
    Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, New York, USA
    Pediatrics 122:e341-9. 2008
    ..The objective of this study was to characterize the clinical features of patients with Niemann-Pick disease type B and to identify efficacy end points for future clinical trials of enzyme-replacement therapy...
  3. pmc Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Box 1497, Mount Sinai School of Medicine, 1428 Madison Avenue, New York, NY 10029, USA
    Pharmacogenomics 13:297-307. 2012
    ....
  4. ncbi request reprint Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Hum Mutat 25:299-305. 2005
    ..14 and 0.25 in both normal individuals and Fabry patients, respectively. This DHPLC method should improve the rapidity and cost-effectiveness of alpha-Gal A mutation identification in affected males and carrier females for Fabry disease...
  5. pmc Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Box 1498, Mount Sinai School of Medicine of New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Pharmacogenomics 11:781-91. 2010
    ..Thus, we determined the individual and combined frequencies of important CYP2C9, VKORC1 and CYP4F2 variants in several racial/ethnic groups...
  6. pmc Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    Hum Genomics 2:297-309. 2006
    ....
  7. pmc Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation
    Sonia Clavero
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
    Mol Med 16:381-8. 2010
    ..Thus, the synergistic interaction of two rare amino acid substitutions in the URO-synthase polypeptide caused the feline model of human CEP...
  8. ncbi request reprint Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews
    Jianli Dong
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Am J Med Genet 110:253-7. 2002
    ..This sensitive and specific assay should facilitate carrier screening for FD mutations in the AJ community, as well as postnatal diagnostic testing...
  9. pmc CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Pharmacogenomics 10:1243-55. 2009
    ..1173C>T) commonly found among Caucasians. Therefore, this study sought to identify other CYP2C9 and VKORC1 alleles important in warfarin dose variability and to determine their frequencies in different racial and ethnic groups...
  10. pmc Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes
    Manisha Balwani
    Comprehensive Gaucher Disease Treatment Center, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Arch Intern Med 170:1463-9. 2010
    ..However, there are no systematic studies of N370S homozygotes to support this presumption...
  11. pmc Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts
    David F Bishop
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Blood 115:1062-9. 2010
    ..This is the first BPS mutation in the last intron, presumably accounting for the observed 100% intron retention without exon skipping...
  12. pmc Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Am J Hum Genet 82:495-500. 2008
    ..1639G-->A) or "resistant" (VKORC1 p.D36Y) allele, indicating that each group has different warfarin pharmacogenetics and would benefit from genotype-based dose predictions...
  13. ncbi request reprint Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
    Makiko Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 22:486-92. 2003
    ..Thus, D313Y is a rare exonic variant with about 60% of wild-type activity in vitro and reduced activity at neutral pH, resulting in low plasma alpha-Gal A activity...
  14. pmc Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes
    David F Bishop
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Mol Med 17:748-56. 2011
    ..Of significance for therapeutic intervention, these mouse models suggest that only 11% of wild-type activity might be needed to reverse the pathology in CEP patients...
  15. pmc Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Hum Mutat 31:1240-50. 2010
    ..Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population...
  16. doi request reprint CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population
    Stuart A Scott
    Mount Sinai School of Medicine of New York University, Department of Genetics and Genomic Sciences, Box 1498, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Pharmacogenomics 8:721-30. 2007
    ..To determine and compare the cytochrome P450 (CYP)2C9, CYP2C19 and CYP2D6 allele and genotype frequencies in the Ashkenazi Jewish (AJ) population with other populations...
  17. pmc Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions
    David F Bishop
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 78:645-58. 2006
    ..These mice provide insight into why CEP is an erythroid porphyria, and they should facilitate studies of the disease pathogenesis and therapeutic endeavors for CEP...
  18. ncbi request reprint Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population
    Ruth Kornreich
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:415-20. 2004
    ..In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of < 100% AJ descent are reported...
  19. ncbi request reprint The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study
    Melissa P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Pediatrics 114:e672-7. 2004
    ..The objectives of this study were to document the natural history of the disease in a large, clinically heterogeneous patient population that was followed for a period of 10 years and to determine how genotype influences phenotype...
  20. pmc Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation
    Julie L Cantatore-Francis
    Department of Dermatology, New York University School of Medicine, 560 First Ave, Room H 100, New York, NY 10016, USA
    Arch Dermatol 146:529-33. 2010
    ..The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine...
  21. pmc A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci
    Eimear E Kenny
    Department of Computer Sciences, Columbia University, New York, New York, United States of America
    PLoS Genet 8:e1002559. 2012
    ..2% of the total genetic variance for CD risk in the AJ population. This study demonstrates the complementary value of genetic studies in the Ashkenazim...
  22. ncbi request reprint Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology
    Lisa Edelmann
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:431-8. 2004
    ..To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H...
  23. ncbi request reprint Lipid abnormalities in children with types A and B Niemann Pick disease
    Margaret M McGovern
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pediatr 145:77-81. 2004
    ..To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype...
  24. ncbi request reprint Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
    Maryam Banikazemi
    Mount Sinai School of Medicine of New York University, New York, New York, USA
    Ann Intern Med 146:77-86. 2007
    ..Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac, and cerebrovascular involvement...
  25. ncbi request reprint Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, Fifth Avenue and 100th Street, New York, NY 10029, USA
    Nephrol Ther 2:S172-85. 2006
    ..The Phase 4 trial results also emphasize the importance of early treatment. In sum, these clinical trials provide the evidence-based safety and efficacy of Fabrazyme replacement therapy for Fabry disease...
  26. pmc AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function
    Makiko Yasuda
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Mol Ther 18:17-22. 2010
    ..Thus, liver-directed gene therapy provided successful long-term correction of the hepatic metabolic abnormalities and improved neuromotor function in the murine model of human AIP...
  27. pmc Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
    Sonia Clavero
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Hum Mol Genet 19:584-96. 2010
    ..These animal models may permit further investigation of the pathogenesis of the acute, life-threatening neurological attacks in human AIP and the evaluation of therapeutic strategies. GenBank Accession Numbers: GQ850461-GQ850464...
  28. doi request reprint Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease
    Robert Dobrovolny
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
    Hum Mutat 32:688-95. 2011
    ..This method can identify gene rearrangements that may be cryptic to genomic DNA sequencing and can be readily adapted to other X-linked or autosomal dominant genes...
  29. pmc Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study
    Inga Peter
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 USA
    BMC Med Genet 12:63. 2011
    ..We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population...
  30. ncbi request reprint Ocular manifestations of Niemann-Pick disease type B
    Margaret M McGovern
    Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Ophthalmology 111:1424-7. 2004
    ..To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B)...
  31. ncbi request reprint Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes
    Ronald B J Glass
    Department of Radiology, Mount Sinai School of Medicine, New York, NY, USA
    J Comput Assist Tomogr 28:158-68. 2004
    ....
  32. doi request reprint The porphyrias: advances in diagnosis and treatment
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Hematology Am Soc Hematol Educ Program 2012:19-27. 2012
    ..These developments are reviewed to update hematologists on the latest advances in these diverse disorders...
  33. ncbi request reprint Growth restriction in children with type B Niemann-Pick disease
    Melissa P Wasserstein
    Department of Human Genetics, and the Carl C Icahn Institute for Gene Therapy and Molecular Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pediatr 142:424-8. 2003
    ..To compare growth of children with type B Niemann-Pick disease (NPD) with disease variables including genotype, organomegaly, bone age, and serum insulin-like growth factor-1 (IGF-1)...
  34. ncbi request reprint Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring
    Marie E Grace
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York University, New York, New York 10029, USA
    Hum Mutat 28:866-73. 2007
    ..Recognition of these mutations, particularly G102S, will facilitate the use and interpretation of plasma Chito activities for disease diagnosis, estimating disease severity, and monitoring therapeutic efficacy in GD...
  35. pmc Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation
    Makiko Yasuda
    Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, New York, NY 10029, USA
    Am J Hum Genet 73:162-73. 2003
    ..Characterization of these 3' mutations identified a novel molecular mechanism causing classical Fabry disease...
  36. pmc Homozygous nonsense mutations in TWIST2 cause Setleis syndrome
    Turgut Tukel
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Am J Hum Genet 87:289-96. 2010
    ....
  37. ncbi request reprint Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval
    Robert J Desnick
    Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th St, New York, NY 10029, USA
    Expert Opin Biol Ther 4:1167-76. 2004
    ..The process also highlighted important issues in the evaluation of drugs to treat life-threatening genetic diseases for which the pathological basis is well-defined...
  38. ncbi request reprint Human uroporphyrinogen III synthase: NMR-based mapping of the active site
    Luis Cunha
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York 10029 6574, USA
    Proteins 71:855-73. 2008
    ..The absence of chemical shift changes in the (15)N spectrum of URO-synthase mixed with the homogeneous HMB-synthase holoenzyme or URO-decarboxylase precluded occurrence of a stable cytosolic enzyme complex...
  39. ncbi request reprint Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
    Melissa P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Pediatr 149:554-9. 2006
    ..To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B...
  40. pmc Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria
    David F Bishop
    Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, Mount Sinai Medical Center, New York, New York 10029, USA
    Mol Med 19:18-25. 2013
    ..Thus, these ALAS2 gain-of-function mutations increased the specific activity (ΔAT, ΔAGTG and p.Q548X) or stability (ΔG) of the enzyme, thereby leading to the increased erythroid protoporphyrin accumulation causing XLP...
  41. ncbi request reprint Acute intermittent porphyria: vector optimization for gene therapy
    Makiko Yasuda
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Gene Med 9:806-11. 2007
    ..Since the disease is a hepatic encephalopathy, efforts were focused towards evaluating four different combinations of liver-specific enhancers and promoters for maximal hepatic HMB-synthase expression...
  42. pmc Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families
    Turgut Tukel
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York 10029, USA
    Am J Hum Genet 74:623-36. 2004
    ..Although the AJ controls appear to have a higher frequency of CARD15 mutations than the SOJ controls, it is unlikely that this difference fully explains the excess frequency of CD in the AJ population...
  43. ncbi request reprint Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy
    Maryam Banikazemi
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 1029, USA
    Mol Genet Metab 85:255-9. 2005
    ..In such patients, enzyme replacement at 1 mg/kg effects an early and significant clinical improvement in the gastrointestinal manifestations of Fabry disease...
  44. pmc Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-lin
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Med 19:26-35. 2013
    ..Identification of XLP patients permits accurate diagnosis and counseling of at-risk relatives and asymptomatic heterozygotes...
  45. ncbi request reprint Enzyme replacement and enhancement therapies: lessons from lysosomal disorders
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine at New York University, New York, New York 10029, USA
    Nat Rev Genet 3:954-66. 2002
    ..This review discusses the successes and shortcomings of these therapeutic strategies, and the contributions that they have made to treating lysosomal storage diseases...
  46. ncbi request reprint Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis?
    Maryam Banikazemi
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, NY 10029 6574, USA
    Nat Clin Pract Nephrol 2:72-3. 2006
  47. pmc The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations
    Calogera M Simonaro
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 71:1413-9. 2002
    ..These data provide the first extensive demographic assessment of this disorder and describe several new mutations that can be used to predict phenotypic outcome and to gain new insights into the structure and function of ASM...
  48. ncbi request reprint Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene
    Amr A Shady
    Department of Human Genetics, Mount Sinai School of Medicine, New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Br J Haematol 117:980-7. 2002
    ..The identification and expression of these mutations provided genotype-phenotype correlations and further evidence of the molecular heterogeneity underlying this erythropoietic porphyria...
  49. pmc Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, Fifth Avenue at 100th Street, Box 1498, New York, NY 10029, USA
    J Inherit Metab Dis 34:789-93. 2011
    ..1226A>G allele and the pseudogene, gene conversion, or a new c.1226A>G mutation on the RecNcil background. This novel complex allele highlights a limitation of carrier screening for GD...
  50. doi request reprint Morbidity and mortality in type B Niemann-Pick disease
    Margaret M McGovern
    Department of Pediatrics, Stony Brook School of Medicine, Stony Brook, New York, USA
    Genet Med 15:618-23. 2013
    ..The information collected in this series highlights the need for safe, effective therapy for -Niemann-Pick disease.Genet Med 2013:15(8):618-623. ..
  51. pmc The porphyrias: advances in diagnosis and treatment
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Blood 120:4496-504. 2012
    ..These developments are reviewed to update hematologists on the latest advances in these diverse disorders...
  52. ncbi request reprint High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease
    Grace A Ashley
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, NY 10029, USA
    J Investig Med 50:185-92. 2002
    ..To date, there have been no studies on the regulation of this "housekeeping" gene...
  53. doi request reprint Use of complementary and alternative medicine by patients with lysosomal storage diseases
    Manisha Balwani
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York City, NY, USA
    Genet Med 11:722-7. 2009
    ..To evaluate the extent of complementary and alternative medicine use and perceived effectiveness in patients with lysosomal storage diseases...
  54. pmc A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen
    Jinglan Zhang
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA
    J Chromatogr B Analyt Technol Biomed Life Sci 879:2389-96. 2011
    ..This LC-MS/MS method is rapid, specific, highly sensitive, accurate, and simultaneously measures ALA and PBG in urine, plasma, and tissues permitting porphyria clinical diagnoses, therapeutic monitoring, and research...
  55. ncbi request reprint Fabry disease in childhood
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pediatr 144:S20-6. 2004
  56. ncbi request reprint Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing
    David S Mendelson
    Dept of Radiology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Radiology 238:339-45. 2006
    ..To evaluate findings at radiography, computed tomography (CT), and pulmonary function testing in patients with type B Niemann-Pick disease...
  57. ncbi request reprint Congenital erythropoietic porphyria: advances in pathogenesis and treatment
    Robert J Desnick
    Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, New York University, Fifth Avenue and 100th Street, New York, NY 10029, USA
    Br J Haematol 117:779-95. 2002
  58. ncbi request reprint Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype
    Junaid Shabbeer
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 76:23-30. 2002
    ..These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing the classical Fabry disease phenotype, and permit precise carrier detection and prenatal diagnosis in these families...
  59. pmc Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells
    Elisa Galende
    Department of Medicine, Cardiovascular Research Center, Mount Sinai School of Medicine, New York, NY 10029, USA
    Cell Reprogram 12:117-25. 2010
    ....
  60. pmc Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype
    Satoshi Ishii
    Department of Human Genetics, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10019, USA
    Am J Hum Genet 70:994-1002. 2002
    ..The normal transcript was present in the patients' lymphoblasts and resulted in approximately 10% residual enzyme activity, leading to a cardiac phenotype of Fabry disease...
  61. pmc Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population
    Lisa Edelmann
    Department of Human Genetics, Mount Sinai School of Medicine, New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Am J Hum Genet 70:1023-7. 2002
    ..79%, or 1 in 127 individuals (95% CI 0.40%-1.17%). The addition of both AJ mutations causing this neurodegenerative disorder should be considered for prenatal carrier screening in this population...
  62. doi request reprint Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry
    Malgorzata Jaremko
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, New York 10029, United States
    Anal Chem 82:10186-93. 2010
    ..This method provides the first sensitive, specific, accurate, and reproducible quantitation of Tam and its metabolite isomers for monitoring Tam-treated breast cancer patients...
  63. ncbi request reprint Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
    Dominique P Germain
    Assistance Publique Hopitaux de Paris, Paris, France
    J Am Soc Nephrol 18:1547-57. 2007
    ..Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types...
  64. ncbi request reprint Fabry disease. A case report
    Jozica Kotnik
    Dermatology Service, General Hospital Slovenj Gradec, 2380 Slovenj Gradec, Slovenija
    Acta Dermatovenerol Alp Panonica Adriat 14:15-9. 2005
    ..Early diagnosis is important for the most effective treatment of this disease...
  65. pmc Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
    William R Wilcox
    Cedars Sinai Burns and Allen Research Institute and UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 75:65-74. 2004
    ..Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile...
  66. ncbi request reprint Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease
    Robin J Ziegler
    Genzyme Corporation, Framingham, MA 01701 9322, USA
    Hum Gene Ther 13:935-45. 2002
    ..In this regard, we showed that pretreatment of mice with gamma globulins also resulted in significantly enhanced adenovirus-mediated transduction and expression of alpha-galactosidase A in the liver...
  67. ncbi request reprint Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors
    Malgorzata Przybylska
    Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
    J Gene Med 6:85-92. 2004
    ..The goal of this study was to determine if systemic delivery of a nonviral vector could correct the enzyme deficiency and reduce the levels of GL-3 in different tissues of a transgenic knockout mouse model of the disease...
  68. ncbi request reprint Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease
    Chester Li
    Genzyme Corporation, 31 New York Avenue, Framingham, Massachusetts 01701 9322, USA
    Mol Ther 5:745-54. 2002
    ..Together, these results suggest that the lung may be a viable alternate depot organ for the production and systemic secretion of alpha-galactosidase A for Fabry disease...
  69. ncbi request reprint Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases
    Befekadu Asfaw
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, 128 08 Prague, Czech Republic
    J Lipid Res 43:1096-104. 2002
    ..Relatively high-degree degradation of substrates with alpha-D-Galactosyl moieties hints at a possible contribution of other enzymes...
  70. ncbi request reprint Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male
    Sudheera Magage
    2nd Department of Internal Medicine, 1st School of Medicine, Charles University, Prague, Czech Republic
    Echocardiography 22:333-9. 2005
    ..The procedure safely and effectively alleviated symptomatic left ventricular outflow tract obstruction at long-term follow-up, and the patient's NYHA classification was reduced to NYHA class I to II...
  71. ncbi request reprint Prolonged postpartum proteinuria after early preeclampsia
    John H C Durham
    Department of Medicine, Division of Nephrology and Hypertension, Winthrop University Hospital, Mineola, NY, USA
    Am J Kidney Dis 43:186-91. 2004
  72. ncbi request reprint Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome
    Christopher S Nance
    Peripheral Neuropathy Research Center and Multiple Sclerosis Research Center, Mayo Clinic, Rochester, Minn, USA
    Arch Neurol 63:453-7. 2006
    ..Later-onset variants with residual alpha-galactosidase A activity lack vascular endothelial involvement and classic symptoms, which lead to the development of cardiac and/or renal disease after the fourth decade of life...
  73. ncbi request reprint Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications
    Shane M Meehan
    Department of Pathology, University of Chicago Hospitals and Clinics, Chicago, IL, USA
    Am J Kidney Dis 43:164-71. 2004
    ..These findings have important implications for the renal effectiveness of enzyme replacement therapy in classically affected patients and for the aggressive treatment of proteinuria in Fabry disease...
  74. pmc High incidence of later-onset fabry disease revealed by newborn screening
    Marco Spada
    Department of Pediatrics, University of Torino, Italy
    Am J Hum Genet 79:31-40. 2006
    ....
  75. ncbi request reprint Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma
    Roseline Froissart
    Laboratoire de Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    Mol Genet Metab 80:307-14. 2003
    ..Thus, G411D is the disease-causing mutation, while D313Y is the first coding sequence variant identified in the human alpha-Gal A gene...
  76. ncbi request reprint Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A
    Robin J Ziegler
    Genzyme Corporation, Framingham, Massachusetts, USA
    Mol Ther 15:492-500. 2007
    ..Adoptive transfer of T cells isolated from the spleens of immunotolerized mice suppressed the formation of antibodies in naïve recipient animals, suggesting the possible role of regulatory T cells in effecting this state...
  77. ncbi request reprint Prenatal diagnosis of Fabry disease
    Robert J Desnick
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York 10029, USA
    Prenat Diagn 27:693-4. 2007
  78. ncbi request reprint Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages
    Yunxiang Zhu
    Genzyme Corporation, Framingham, MA 01701 9322, USA
    J Pharmacol Exp Ther 308:705-11. 2004
    ..Together, these data suggest that pretreatment with dexamethasone could specifically enhance the presentation of mannose receptors on Gaucher macrophages with resultant improvement in delivery of the enzyme to the affected cells...
  79. ncbi request reprint Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
    Shoichiro Nakao
    First Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Kagoshima, Japan
    Kidney Int 64:801-7. 2003
    ..To determine if this disorder is underdiagnosed in patients with end-stage renal disease (ESRD), the frequency of unrecognized males with Fabry disease on chronic hemodialysis was determined...
  80. ncbi request reprint A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome
    Tamar Ben-Yosef
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 348:1664-70. 2003
  81. pmc Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes
    Dominique P Germain
    Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
    Mol Med 8:306-12. 2002
    ....
  82. ncbi request reprint Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
    Beth L Thurberg
    Department of Pathology, Genzyme Corporation, Cambridge, Massachusetts, USA
    Kidney Int 62:1933-46. 2002
    ..With the advent of recombinant protein synthesis technology, enzyme replacement therapy has become a viable alternative to dialysis or renal transplantation, previously the only available treatment options for end-stage renal disease...
  83. ncbi request reprint AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice
    Robin J Ziegler
    Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
    Mol Ther 9:231-40. 2004
    ..Together, these results demonstrate that AAV2-mediated gene transfer that limits the expression of alpha-galactosidase A to the liver may be a viable strategy for treating Fabry disease...