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Pediatric Research|September 1, 1993
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemiasK M Gibson, H J ten Brink, D S Schor, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysisM J Bennett, K M Gibson, W G Sherwood, et al.
The Journal of Pediatrics|December 1, 1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsK M Gibson, M J Bennett, C E Mize, et al.
American Journal of Medical Genetics|August 26, 1998
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiencyD D Hinson, Z R Rogers, G F Hoffmann, et al.
Pediatrics|May 1, 1993
Clinical and biochemical phenotype in 11 patients with mevalonic aciduriaG F Hoffmann, C Charpentier, E Mayatepek, et al.
European Journal of Pediatrics|June 1, 1988
4-Hydroxybutyric aciduria in a patient without ataxia or convulsionsK M Gibson, G Hoffmann, W L Nyhan, et al.
Science Translational Medicine|July 29, 2016
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Molecular Genetics and Metabolism|August 26, 2022
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approachBarbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, et al.
Human Molecular Genetics|July 1, 1996
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiencyL Dupuis, A Leon-Del-Rio, D Leclerc, et al.
JIMD Reports|February 19, 2017
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase DeficiencyS S Johansen, X Wang, D Sejer Pedersen, et al.
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