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Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
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When MRI is a Clue in Episodic Ataxia
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Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
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Neurological Findings in Aminoacylase 1 Deficiency
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Cerebral Edema Causing Death in Children with Maple Syrup Urine Disease
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Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
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Neurological Deterioration in Young Adults with Phenylketonuria
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
A Synd of Methylmal Acid, Homocystinuria, Megaloblas. Anemia & Neurol Abnor. in a Vit B-12-def Breast-fed Infant of veget
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Pediatric Neurology
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Prenatal Genetic Diagnosis
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