Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Mitochondrial Encephalomyopathy with Associated Aminoacidopathy in a Male Sibship
J Pediatr 115:81-88, Sooth,F.A.,et al, 1989
Myopathy and Cystine Storage in Muscles in a Patient with Nephropathic Cystinosis
NEJM 392:1461-1464, Gahl,W.A.,et al, 1988