Medical College of Wisconsin
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Publications indexed to the term Amino Acid Metabolism, Inborn Errors

FacultyTitle
1Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. (Kuhl A, van Calcar S, Baker M, Seroogy CM, Rice G, Scott Schwoerer J) Genet Med 2017 Mar;19(3):352-356       8 Citations
1Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. (Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS) Mol Genet Metab 2013;110(1-2):111-5       28 Citations
1Gene therapy for aromatic L-amino acid decarboxylase deficiency. (Zwagerman NT, Richardson RM) Neurosurgery 2012 Oct;71(4):N10-2       4 Citations
1Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. (Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A) N Engl J Med 2007 May 31;356(22):2282-92       303 Citations
12-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. (van Calcar SC, Gleason LA, Lindh H, Hoffman G, Rhead W, Vockley G, Wolff JA, Durkin MS) WMJ 2007 Feb;106(1):12-5       33 Citations
1'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. (Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B) J Inherit Metab Dis 2006;29(2-3):383-9       213 Citations
1Genetic counseling issues in urea cycle disorders. (Sniderman King L, Singh RH, Rhead WJ, Smith W, Lee B, Summar ML) Crit Care Clin 2005 Oct;21(4 Suppl):S37-44       20 Citations
1Urea cycle disorders: clinical presentation outside the newborn period. (Smith W, Kishnani PS, Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith M, Summar M) Crit Care Clin 2005 Oct;21(4 Suppl):S9-17       85 Citations
1Nutritional management of urea cycle disorders. (Singh RH, Rhead WJ, Smith W, Lee B, Sniderman King L, Summar M) Crit Care Clin 2005 Oct;21(4 Suppl):S27-35       49 Citations
1Considerations in the difficult-to-manage urea cycle disorder patient. (Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML) Crit Care Clin 2005 Oct;21(4 Suppl):S19-25       14 Citations
1Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M) Hum Genet 2005 Apr;116(5):340-6       25 Citations
1Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. (Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW) Nat Genet 1996 Nov;14(3):361-5       80 Citations
1Molecular cloning and structural characterization of the human histidase gene (HAL). (Suchi M, Sano H, Mizuno H, Wada Y) Genomics 1995 Sep 01;29(1):98-104       45 Citations
1Molecular cloning of a cDNA encoding human histidase. (Suchi M, Harada N, Wada Y, Takagi Y) Biochim Biophys Acta 1993 Nov 16;1216(2):293-5       24 Citations
1Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. (Freneaux E, Sheffield VC, Molin L, Shires A, Rhead WJ) J Clin Invest 1992 Nov;90(5):1679-86       50 Citations
1Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation. (Powell BR, Kennaway NG, Rhead WJ, Reece CJ, Burlingame TG, Buist NR) Neurology 1990 Mar;40(3 Pt 1):487-91       22 Citations
1Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. (Rutledge SL, Havens PL, Haymond MW, McLean RH, Kan JS, Brusilow SW) J Pediatr 1990 Jan;116(1):125-8       92 Citations
1Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship. (Booth FA, Haworth JC, Dilling LA, Perry TL, Greenberg CR, Seargeant LE, Penn AM, Rhead WJ) J Pediatr 1989 Jul;115(1):81-8       5 Citations
1Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts. (Rhead W, Mantagos S, Tanaka K) Pediatr Res 1980 Dec;14(12):1339-42       30 Citations
1Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia. (Rhead WJ, Tanaka K) Proc Natl Acad Sci U S A 1980 Jan;77(1):580-3       63 Citations
1Inhibition of gamma-glutamylcysteine synthetase by cystamine: an approach to a therapy of 5-oxoprolinuria (pyroglutamic aciduria). (Griffith OW, Larsson A, Meister A) Biochem Biophys Res Commun 1977 Dec 07;79(3):919-25       68 Citations
1Cystine metabolism in human fibroblasts. Comparison of normal, cystinotic, and gamma-glutamylcysteine synethetase-deficient cells. (Oshima RG, Rhead WJ, Thoene JG, Schneider JA) J Biol Chem 1976 Jul 25;251(14):4287-93       43 Citations