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Neurology|December 31, 1997
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutationsI D Wexler, S G Hemalatha, J McConnell, et al.
Metabolism: Clinical and Experimental|September 1, 1992
The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acidB Marescau, P P De Deyn, I A Qureshi, et al.
The Journal of Pediatrics|February 1, 1996
Nonketotic hyperglycinemia: atypical clinical and biochemical manifestationsR D Steiner, D A Sweetser, J R Rohrbaugh, et al.
The Journal of Pediatrics|March 10, 2001
Ophthalmic drops causing coma in an infantR J Berlin, U T Lee, J R Samples, et al.
American Journal of Human Genetics|June 23, 1998
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndromeC A Wassif, C Maslen, S Kachilele-Linjewile, et al.
Gene Therapy|February 8, 2013
AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouseE K Lee, C Hu, R Bhargava, et al.
The Journal of Clinical Investigation|October 1, 1994
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal deathJ C Brackett, H F Sims, R D Steiner, et al.
Molecular Genetics and Metabolism|July 17, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in CaliforniaN M Gallant, K Leydiker, Y Wilnai, et al.
Neurology|March 12, 2003
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiencyP C Goldenberg, R D Steiner, L S Merkens, et al.
American Journal of Medical Genetics|September 20, 2000
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotypingP A Krakowiak, N A Nwokoro, C A Wassif, et al.
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