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Molecular Genetics and Metabolism|June 3, 1998
Cloning and characterization of the mouse and rat type II arginase genesR K Iyer, J M Bando, C P Jenkinson, et al.
Pediatric Research|March 1, 1990
Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapyB Marescau, P P De Deyn, A Lowenthal, et al.
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.
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.
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.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
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