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

Growth Hormone Excess in Children with Optic Pathway Tumors Is a Transient Phenomenon Horm Res Paediatr86 (1): 35-8
Carrier screening in the era of expanding genetic technology Genet Med18 (12): 1214-1217
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naive to enzyme replacement therapy or previously treated with imiglucerase Mol Genet Metab117 (2): 164-71
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome Mol Genet Metab114 (1): 11-18
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment J Inherit Metab Dis36 (3): 543-53
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient Am J Med Genet A155A (2): 415-7
Growth hormone excess in children with neurofibromatosis type 1-associated and sporadic optic pathway tumors J Pediatr158 (3): 433-6
Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome J Pediatr Gastroenterol Nutr48 (4): 495-7
Neuroimaging findings in children with rare or novel de novo chromosomal anomalies Birth Defects Res A Clin Mol Teratol82 (4): 200-10
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis7 (1): 70

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

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