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Journal of Inherited Metabolic Disease|January 1, 1995
Identification of N-acetyl-S-(3-oxo-3-carboxy-n-propyl)cysteine in the urine of a patient with cystathioninuria using LC/APCI-MSJ Zhang, N Masuoka, T Ubuka, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotoniaC A Bay, G T Berry, T A Glauser, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Genotyping of a patient homozygous for a rare apolipoprotein E1 [Gly127-->Asp; Arg158-->Cys] (Weisgraber allele)A Iron, P Richard, M P de Zulueta, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Fatty acid content in lymphocytes from children with syndromic paucity of interlobular bile ducts, Alagille syndromeP Pina, M Couturier, F LemonnierJournal of Inherited Metabolic Disease|January 1, 1993
Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)Y Shoji, W Sato, K Hayasaka, et al.Journal of Inherited Metabolic Disease|January 1, 1996
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)E A Karpova, Voznyi YaV, J L Keulemans, et al.Journal of Inherited Metabolic Disease|January 1, 1996
Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblastsC J Pretorius, G G Loy Son, F Bonnici, et al.Journal of Inherited Metabolic Disease|January 1, 1996
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA)D Matern, W Lehnert, K M Gibson, et al.Journal of Inherited Metabolic Disease|January 1, 1996
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal deathE Chen, W L Nyhan, C Jakobs, et al.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.Pageof 429