Joel M. Charrow, MD

Head, Genetics, Birth Defects & Metabolism

Professor of Pediatrics, Northwestern University Feinberg School of Medicine

Appointments & Referrals

1.800.543.7362 (1.800.KIDS DOC)

About Me

Clinical Interests: Skeletal dysplasia, birth defects, dwarfism, Gaucher, Fabry and Pompe disease (lysosomal storage disorders), metabolic disorders, neurofibromatosis, Tay-Sachs Disease

Specialties, Programs & Conditions

Specialties:

Education & Training

Education: Mount Sinai School of Medicine, NY, 1976

Postgraduate Training: Fellowship in genetics, Children's Memorial Hospital, 1979-1981; Residency in pediatrics, Children's Memorial Hospital, 1976-1979

Board Certifications: Medical Genetics, Clinical Genetics, General Pediatrics, Clinical Biochemical Genetics

Research

Research Interests: Tay-Sachs disease; natural history of genetic disorders; neurofibromatosis-1; Gaucher disease; lysosomal storage diseases

Publications

Most recent publications

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1 Blood Cells Mol Dis 71 71-74
beta-Glucocerebrosidase Modulators Promote Dimerization of beta-Glucocerebrosidase and Reveal an Allosteric Binding Site J Am Chem Soc
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial Mol Genet Metab 123 (3): 347-356
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience J Pediatr
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry Am J Hematol 92 (9): 929-939
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome J Med Genet 54 (8): 558-566
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis 11 (1): 149
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders Mol Genet Metab 119 (3): 223-231
Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan Am J Med Genet A 173 (1): 79-87
Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry Mol Genet Metab 119 (1-2): 151-9

Joel M. Charrow, MD

Joel M. Charrow, MD

Head, Genetics, Birth Defects & Metabolism

Professor of Pediatrics, Northwestern University Feinberg School of Medicine

Appointments & Referrals

1.800.543.7362 (1.800.KIDS DOC)

About Me

Specialties, Programs & Conditions

Education & Training

Research

Publications

Call 1.800.543.7362 for Insurance information. 1.800.543.7362

Locations