Robert J Desnick

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. ncbi 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. ncbi 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. ncbi 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 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Detail Information

Publications80

  1. ncbi 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. ncbi 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. ncbi 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 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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
    ....
  10. ncbi 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...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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...
  14. ncbi 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...
  15. ncbi 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. ncbi 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...
  17. ncbi 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...
  18. ncbi 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...
  19. ncbi 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...
  20. ncbi 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...
  21. ncbi 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 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)...
  23. ncbi 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 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 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
    ..Renal imaging abnormalities were more frequent in older patients with elevated serum creatinine levels, regardless of alpha-Gal A genotype or Fabry phenotype...
  26. ncbi 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...
  27. ncbi 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...
  28. ncbi 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...
  29. ncbi 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...
  30. ncbi 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...
  31. ncbi 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...
  32. ncbi 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...
  33. ncbi 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...
  34. ncbi 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...
  35. ncbi 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...
  36. ncbi 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 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)...
  38. ncbi 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...
  39. ncbi 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...
  40. ncbi 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...
  41. ncbi 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. ncbi 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...
  43. ncbi 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...
  44. ncbi 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
  45. ncbi 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 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...
  47. ncbi 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...
  48. ncbi 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...
  49. ncbi 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...
  50. ncbi 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
  51. ncbi 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...
  52. ncbi 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. ncbi 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
  54. ncbi 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...
  55. ncbi 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...
  56. ncbi 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...
  57. ncbi 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...
  58. ncbi 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
    ....
  59. ncbi 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...
  60. ncbi 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...
  61. ncbi 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...
  62. ncbi 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...
  63. ncbi 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
    ..His mother was heterozygous for the A143T mutation. CONCLUSION: The presentation of cramps and fasciculations without apparent small-fiber neuropathy expands the phenotype of later-onset Fabry disease...
  64. ncbi 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...
  65. ncbi 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
  66. ncbi 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...
  67. ncbi 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
    ....
  68. ncbi 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...
  69. ncbi 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...
  70. ncbi 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
    ....
  71. ncbi 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...
  72. ncbi 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
    ....
  73. ncbi 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
  74. ncbi 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
    ..These patients and their family members may benefit from enzyme replacement therapy for the later, life-threatening cardiovascular and cerebrovascular complications of Fabry disease...
  75. ncbi 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...
  76. ncbi Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma
    Roseline Froissart
    , , 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...
  77. ncbi 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...
  78. ncbi 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
  79. ncbi 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
    ..However, substantial improvements in expression, especially in critical organs such as the kidney, are required before these vectors can become a viable approach to treat Fabry disease and other lysosomal storage disorders...
  80. ncbi 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...