Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
A 55-Year-Odd Man with Old Behavior and Abnormal Movements
Neurol 97:1090-1093, McIntosh, P. & Scott, B., 2021
Inherited Metabolic Diseases of the Nervous System, Galactosemia
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
Adams & Victors Principles of Neurology, Chp 37, pg 952, Ropper, A.H.,et al, 2014
Neurologic and Cognitive Deficits in Children with Cystinosis
J Pediatr 112:912-914, Trauner,D.A.,et al, 1988
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985