Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Congenital Cytomegalovirus Infection
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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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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Cognitive Delay in a 7-year-old Girl
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The Autosomal Recessive Cerebellar Ataxias
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Epilepsy in Children with Infantile Thiamine Deficiency
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The Floppy Infant: Evaluation of Hypotonia
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Aicardi-Gouti�res Syndrome
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Neurological Findings in Aminoacylase 1 Deficiency
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Glycogen-Storage Disease Type II
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A Floppy Child with Failure to Thrive
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Prader-Willi and Angelman Syndromes
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Dipsticks and Convulsions
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Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
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Muscle-Eye-Brain Disease:A Neuropathological Study
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Causal Heterogeneity in Isolated Lissencephaly
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Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
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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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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Muscle Carnitine Deficiency in Patients Using Valproic Acid
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Fucosidosis Revisited:A Review of 77 Patients
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Congenital Muscular Dystrophy
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Rett Syndrome:Natural History and Management
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Alternating Hemiplegia of Childhood
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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The Cerebrohepatorenal (Zellweger) Syndrome
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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