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Home >Contributors >Contributors Details

Robert J. Desnick, Ph.D., M.D.

Professor and Chairman, Human Genetics, Professor of Pediatrics; Attending Physician, Dept. of Human Genetics, Mount Sinai School of Medicine, New York, New York

Chapter 124:Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias
Chapter 137:Pycnodysostosis: Cathepsin K Deficiency
Chapter 139:α-N- Acetylgalactosaminidase Deficiency: Schindler Disease
Chapter 144:Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies
Chapter 150:α-Galactosidase A Deficiency: Fabry Disease
Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies