A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopath Conf, Infantile Krabbe Disease
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Recurrent Acroparaesthesia During Febrile Infections
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Clumsiness, Confusion, Coma, and Valproate
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Fucosidosis Revisited:A Review of 77 Patients
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