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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A 40-Year-Old Woman Presenting with Distal Leg Weakness
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
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Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Craniopharyngyoma in Children
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
NEJM 311:920-921, Brauner,R.,et al, 1984
Morquio's Disease, A Radiologic & Morphologic Study
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