The Phenotypic Continuum of ATP1A3-Related Disorders
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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Neuroimaging Features of Biotinidase Deficiency
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Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Hydrocephalus
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Neurodevelopment and Cognition in Children After Enterovirus 71 Infection
NEJM 356:1226-1234, Chang,L.-Y.,et al, 2007
Phenylketonuria
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Prader-Willi and Angelman Syndromes
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
Am J Med 68:122-140, Hall,J.G.,et al, 1980
Hazards of Oral Anticoagulants During Pregnancy
JAMA 243:1549-1551, Stevenson,R.E.,et al, 1980
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Neurological Complications of Infantile Osteopetrosis
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Congenital Anomalies & Herpesvirus Infection
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