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The Journal of Pediatrics|November 1, 1976
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cellsS Milstien, N A Holtzman, M E O'Flynn, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)M L Loscalzo, R L Galczynski, A Hamosh, et al.
Mutation Research|September 1, 1977
Photoreactivation of thymine dimers in UV-irradiated human cells: unique dependence on culture conditionsK Mortelmans, J E Cleaver, E C Friedberg, et al.
Pediatric Research|December 1, 1986
Behavioral and neurotransmitter changes in the urease-infused rat: a model of congenital hyperammonemiaM L Batshaw, S L Hyman, E D Mellits, et al.
The Journal of Pediatrics|April 1, 1984
Early manifestations of multiple sulfatase deficiencyR D Burk, D Valle, G H Thomas, et al.
Clinical Genetics|November 1, 1975
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological diseaseG H Thomas, R H Haslam, M L Batshaw, et al.
FEMS Microbiology Letters|March 25, 2000
Novel growth characteristics and high rates of nitrate reduction of an Escherichia coli strain, LCB2048, that expresses only a periplasmic nitrate reductaseL C Potter, P D Millington, G H Thomas, et al.
Acta Neurochirurgica. Supplementum|January 1, 1983
Deposition of scar tissue in the central nervous systemM Berry, W L Maxwell, A Logan, et al.
Science (New York, N.Y.)|August 12, 1988
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia lociL M Davis, R Stallard, G H Thomas, et al.
The Journal of Biological Chemistry|September 15, 1989
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage diseaseF Tietze, R Seppala, M Renlund, et al.
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