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Mucolipidosis Type IV; Characteristic MRI Findings
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Bilirubin Metabolism and Kernicterus
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fucosidosis Revisited:A Review of 77 Patients
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Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
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Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Alternating Hemiplegia in Infants:Report of Five Cases
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Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
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Genetic Counseling in Retinitis Pigmentosa
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Transition to Adult Care for Children with Chronic Neurological Disorders
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Epilepsy in Children with Infantile Thiamine Deficiency
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Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Phenylketonuria
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Association of Tuberous Sclerosis of Temporal Lobes with Autism and Atypical Autism
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Muscle-Eye-Brain Disease:A Neuropathological Study
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Neurodevelopmental Outcome of Infants with Hypoplastic Left Heart Syndrome
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Survival of Profoundly Disabled People with Severe Mental Retardation
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Fetal Alcohol Syndrome and Fetal Alcohol Effects
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Prenatal Alcohol Exposure and Long-Term Developmental Consequences
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Magnetic Resonance Imaging of Brain and the Neuromotor Disorder in Endemic Cretinism
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Arginase Deficiency Presenting as Cerebral Palsy
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Long-Term Outcome of Neonatal Meningitis
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Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
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Twinning and Neurologic Morbisity
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Angelman Syndrome: Clinical Profile
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