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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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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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The Exercise Test in Andersen Syndrome
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
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Fetal Alcohol Syndrome and Fetal Alcohol Effects
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Congenital Brain Anomalies Associated with the Hypoplastic Left Heart Syndrome
Pediatrics 85:984-990, Glauser,T.A.,et al, 1990
Molybdenum Cofactor Deficiency
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Angelman Syndrome Revisited
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