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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Cystic Fibrosis Presenting With Intracerebral Haemorrhage
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Leigh Syndrome: Serial MR Imaging and Clinical Follow-Up
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Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Alexander's Disease, A Disease of Astrocytes
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