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Journal of Inherited Metabolic Disease|January 1, 1996
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutationsM P Sperandeo, M Candito, G Sebastio, et al.Human Mutation|March 29, 2000
Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1P K Nogueira, T S Vuong, O Bouton, et al.Archives of Biochemistry and Biophysics|October 24, 1998
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patientN Zapater, J Pié, J Lloberas, et al.Brain & Development|July 1, 1995
An atypical French form of pyruvate carboxylase deficiencyM Pineda, J Campistol, M A Vilaseca, et al.Pediatrie|January 1, 1992
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]C Elleau, F Parrot-Roulaud, Y Perel, et al.Molecular Genetics and Metabolism|August 17, 2004
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiencyM L Cardoso, M R Rodrigues, E Leão, et al.Human Genetics|May 26, 1998
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemiaS Kure, H Mandel, M O Rolland, 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.European Journal of Pediatrics|December 22, 1999
Combined liver-kidney transplantation in primary hyperoxaluria type 1P Cochat, J M Gaulier, P C Koch Nogueira, et al.Journal of Inherited Metabolic Disease|January 25, 2008
NTBC treatment in tyrosinaemia type I: long-term outcome in French patientsA Masurel-Paulet, J Poggi-Bach, M-O Rolland, et al.Pageof 5