Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
When MRI is a Clue in Episodic Ataxia
Neurol 93:e2074-e2075, Dhawan, S.R.,et al, 2019
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
Neurological Findings in Aminoacylase 1 Deficiency
Neurol 68:2151-2153, Sass,J.O.,et al, 2007
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
Uses and Technique of Pediatric Lumbar Puncture
Am J Dis Child 146:1160-1165, Ward,E.&Gushurst,C.A., 1992
Cerebral Edema Causing Death in Children with Maple Syrup Urine Disease
J Pediatr 119:42-45, Riviello,J.J.,et al, 1991
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
Neurological Deterioration in Young Adults with Phenylketonuria
Lancet 336:602-605, Thompson,A.J.,et al, 1990
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
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Possible Pathophysiology of Neurologic Abnormalities assoc. with Nonketotic hyperglycinemia
NEJM 294:1295, Ramson,B.R., 1976
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
Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966
Metabolic Defects Associated with Mental Retardation
Am J Dis Child 104:401, Garell,D., 1962