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Showing articles 0 to 14 of 14

Filter Applied: aminoacidurias (Click to remove)

Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990

When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019

Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005

Cerebral Edema Causing Death in Children with Maple Syrup Urine Disease
J Pediatr 119:42-45, Riviello,J.J.,et al, 1991

Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978

Inherited Metabolic Diseases of the Nervous System, Maple Syrup Urine Disease
Adams & Victors Principles of Neurology, Chp 37, pg 953, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, The Phenylketonuria
Adams & Victors Principles of Neurology, Chp 37, pg 968, Ropper, A.H.,et al, 2014

Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991

Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984

Ophthalmoplegia & Bulbar Palsy in Variant Form of Maple Syrup Urine Disease
Ann Neurol 6:71-72, Chhabria,S.,et al, 1979

Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978

Pediatric Neurology
Psych Annals 2:1, , 1972

Encephalomyelopathy of Leigh
Editorial BMJ 238, 1971, May., , 1971

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970



Showing articles 0 to 14 of 14