The Online Metabolic and Molecular Bases of Inherited Disease: Home

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William S. Sly, M.D.

Alice A. Doisy Professor of Biochemistry and Molecular Biology, Chair, Edward A. Doisy Dept. of Biochemistry and Molecular Biology, Professor of Pediatrics, St. Louis University School of Medicine, St. Louis, Missouri

Chapter 1:Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes

Chapter 138:I-Cell Disease and Pseudo-Hurler Polydystrophy: Disorders of Lysosomal Enzyme Phosphorylation and Localization

Chapter 208:The Carbonic Anhydrase II Deficiency Syndrome: Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification