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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Neurodegeneration with Brain Iron Accumulation
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
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Glycogen-Storage Disease Type II
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Practice Parameter: Evaluation of the Child with Global Developmental Delay
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Mental Development of 2-Year-Old Children Exposed to Alcohol in Utero
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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Growth & Development in Children with Sickle-Cell Trait
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A Comparison of the Physical & Intellectual Development of Black Children with & without Sickle-Cell Trait
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Congenital Anomalies & Herpesvirus Infection
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