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:

Genetics, Birth Defects & Metabolism

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

See Northwestern University Faculty Profile >

Research

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

Northwestern Scholars Profile >

Publications

Most recent publications

Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma J Pediatr206190-196
Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood J Clin Psychol Med Settings
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1 Blood Cells Mol Dis7171-74
beta-Glucocerebrosidase Modulators Promote Dimerization of beta-Glucocerebrosidase and Reveal an Allosteric Binding Site J Am Chem Soc140 (18): 5914-5924
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial Mol Genet Metab123 (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 Hematol92 (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 Genet54 (8): 558-566
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis11 (1): 149
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders Mol Genet Metab119 (3): 223-231

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 for Insurance information: 1.800.543.7362

Location