Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Cystic Fibrosis Presenting With Intracerebral Haemorrhage
Lancet 358:1960, Merelle,M.E.,et al, 2001
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993
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
Diencephalic Syndrome & von Recklinghausen's Disease
Ann Neurol 2:159, Adornato,B.,et al, 1977