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Hyperphenylalaninemia Due To A Deficiency of Biopterin
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Neuroimaging Features of Biotinidase Deficiency
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A Child with Delayed Motor Milestones and Ptosis
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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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Molybdenum Cofactor Deficiency
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Cognitive Delay in a 7-year-old Girl
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
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Infant Developmental Milestones and Subsequent Cognitive Function
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Angelman Syndrome Revisited
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Phenylketonuria
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Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Natural History of Nonketotic Hyperglycinemia in 65 Patients
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Cognitive and Motor Outcomes of Cocaine-Exposed Infants
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