Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
MRI in Methylmalonic Acidemia
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Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Duchenne Muscular Dystrophy
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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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, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Cognitive and Motor Development in Infants at Risk for Human Immunodeficiency Virus
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Environmental Exposure to Lead & Children's Intelligence at Age 7 Years
NEJM 327:1279-1284, 13081992., Baghurst,P.A.,et al, 1992
Cognitive Development of Yu-Cheng ('Oil Disease') Children Prenatally Exposed to Heat-Degraded PCBs
JAMA 268:3213-3218, Chen,Y.J.,et al, 1992
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983
Diagnostic Delay in Duchenne's Muscular Dystrophy
JAMA 247:478-480, Crisp,D.E.,et al, 1982
Fetal Methylmercury Poisoning:Clinical & Toxicological Data on 29 Cases
Ann Neurol 7:348-353, Marsh,D.O.,et al, 1980