The Autosomal Recessive Cerebellar Ataxias
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Infantile Neuronal Degeneration Masquerading as Werdnig-Hoffmann Disease
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Spinal Muscular Atrophy
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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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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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Central Core Disease, Clinical Features in 13 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Alternating Hemiplegia of Childhood
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Clin. Path. Conference
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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The Neuropathy of Acute Intermittent Porphyria
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
A Young Woman with Rapidly Progressive Weakness and Paresthesia
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A Teenager with Shortness of Breath and Difficulty Walking
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Sydenham Chorea
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
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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Huntington Disease: Clinical Features and Diagnosis
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A Neonate with Micrognathia and Hypotonia
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Cognitive Delay in a 7-year-old Girl
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The Floppy Infant: Evaluation of Hypotonia
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Aicardi-Gouti�res Syndrome
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Case 35-2006: A Newborn Boy with Hypotonia
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Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
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An Infant with Encephalitis
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