A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Neurodegeneration with Brain Iron Accumulation
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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MRI in Methylmalonic Acidemia
Neurol 74:e14, Bindu, P.S.,et al, 2010
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Rett Syndrome:Natural History and Management
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Recognising & Preventing Duchenne Muscular Dystrophy
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