|
Ficicioglu, C; Mandell, R; Shih, V E (2009) Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab 98:273-7
|
|
Hu, F L; Gu, Z; Kozich, V et al. (1993) Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet 2:1857-60
|
|
Shih, V E; Laframboise, R; Mandell, R et al. (1992) Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis. Prenat Diagn 12:717-23
|
|
Hauser, S L; Doolittle, T H; Lopez-Bresnahan, M et al. (1992) An antispasticity effect of threonine in multiple sclerosis. Arch Neurol 49:923-6
|
|
Park, J K; O'Donnell, J J; Shih, V E et al. (1992) A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. Hum Mutat 1:293-7
|
|
Park, J K; Herron, B J; O'Donnell, J J et al. (1992) Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy. Genomics 14:553-4
|
|
Ramesh, V; Cheng, S V; Kozak, C A et al. (1992) Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3. Mamm Genome 3:17-22
|
|
Woolf, A D; Wynshaw-Boris, A; Rinaldo, P et al. (1992) Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder. J Pediatr 120:421-4
|
|
Wajner, M; Sanseverino, M T; Giugliani, R et al. (1992) Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase. Clin Genet 41:202-5
|
|
Doherty, L B; Rohr, F J; Levy, H L (1991) Detection of phenylketonuria in the very early newborn blood specimen. Pediatrics 87:240-4
|
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