M P Wasserstein

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. ncbi Cerebral glucose metabolism in adults with early treated classic phenylketonuria
    M P Wasserstein
    Departments of Human Genetics and Pediatrics, New York, NY 10029, USA
    Mol Genet Metab 87:272-7. 2006
  2. 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
  3. 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
  4. 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
  5. 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
  6. ncbi Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation
    M P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet 84:334-9. 1999
  7. 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
  8. ncbi Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte
    James D Weisfeld-Adams
    Program for Inherited Metabolic Diseases, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 99:116-23. 2010
  9. ncbi High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
    Laurie E Profitlich
    Mount Sinai School of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, NY 10029, USA
    Mol Genet Metab 98:344-8. 2009
  10. ncbi Newborn screening for Krabbe disease: the New York State model
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA
    Pediatr Neurol 40:245-52; discussion 253-5. 2009

Research Grants

  1. NIEMANN-PICK DISEASE
    Melissa Wasserstein; Fiscal Year: 2005

Collaborators

Detail Information

Publications17

  1. ncbi Cerebral glucose metabolism in adults with early treated classic phenylketonuria
    M P Wasserstein
    Departments of Human Genetics and Pediatrics, New York, NY 10029, USA
    Mol Genet Metab 87:272-7. 2006
    ..The clinical significance of these abnormalities of glucose metabolism in specific areas of the brain remains unknown...
  2. 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...
  3. 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)...
  4. 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...
  5. 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...
  6. ncbi Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation
    M P Wasserstein
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York, USA
    Am J Med Genet 84:334-9. 1999
    ..Since lytic mandibular lesions may be complicated by osteomyelitis, pathologic fracture, and tooth loss, regular dental assessments in Type 1 Gaucher patients should be performed...
  7. 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...
  8. ncbi Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte
    James D Weisfeld-Adams
    Program for Inherited Metabolic Diseases, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 99:116-23. 2010
    ..We propose that low methionine may be useful as a secondary analyte for specific detection of cbl disorders among a larger pool of infants with elevated C3 on NBS...
  9. ncbi High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
    Laurie E Profitlich
    Mount Sinai School of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, NY 10029, USA
    Mol Genet Metab 98:344-8. 2009
    ....
  10. ncbi Newborn screening for Krabbe disease: the New York State model
    Patricia K Duffner
    Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA
    Pediatr Neurol 40:245-52; discussion 253-5. 2009
    ....
  11. 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...
  12. ncbi Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature
    Peter J Mc Guire
    Department of Pediatrics, Mt Sinai Medical Center, One Gustave L Levy Place, New York, NY 10021, USA
    Mol Genet Metab 93:22-9. 2008
    ..Neurologic deterioration continued post-CKLT manifested as a cerebellar stroke. The clinical details and therapeutic implications of solid organ transplant for methylmalonic aciduria are discussed...
  13. 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)...
  14. ncbi Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease
    Jonathan P Desnick
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York 10029, United States of America
    Mol Med 16:316-21. 2010
    ..H427R), c.1564A>G (p.N522S) and c.1575G>C (p.Q525H)] that expressed >5% residual ASM activity. Thus, these new mutations provide novel genotype/phenotype correlations and further document the genetic heterogeneity in types A and B NPD...
  15. ncbi Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population
    L Edelmann
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Hum Genet 69:863-8. 2001
    ..These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group...
  16. ncbi Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials
    M M McGovern
    Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Neurology 66:228-32. 2006
    ..To describe the disease course and natural history of Type A Niemann-Pick disease (NPD)...
  17. 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...

Research Grants5

  1. NIEMANN-PICK DISEASE
    Melissa Wasserstein; Fiscal Year: 2005
    ..In sum, these studies should provide important diagnostic and therapeutic information to improve the outcome of patients diagnosed with NPD. ..