Dr. Melissa Pittel Wasserstein MD
Geneticist | Clinical Biochemical Genetics
1 Gustave L Levy Pl Box 1497 New York NY, 10029Rating
5/5
About
Clinical Interests: Medical Genetics, Pediatric Genetics, Inborn Errors of Metabolism, Lysosomal Storage Diseases, Newborn Screening, Urea Cycle Disorders, Hyperammonemia, Fatty Acid Oxidation Defects ...
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
- Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy.
- Fabry disease: clinical features and recent advances in enzyme replacement therapy.
- The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
- Lipid abnormalities in children with types A and B Niemann Pick disease.
- Cerebral glucose metabolism in adults with early treated classic phenylketonuria.
- Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
- Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.
- Newborn screening for Krabbe disease: the New York State model.
- High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.
- Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report.
- Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
- Morbidity and mortality in type B Niemann-Pick disease.
- Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
- Types A and B Niemann-Pick disease.
Awards
- 2010-2011 New York Super Doctors
Treatments
- Galactosemia, Homocystinuria, Hypoglycemia (low Blood Sugar) And More
Dr. Melissa Pittel Wasserstein MD's Practice location
Practice At 1 Gustave L Levy Pl Box 1497
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