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Items: 1 to 20 of 24

1.

Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject.

Tedesco TA, Mellman WJ.

Proc Natl Acad Sci U S A. 1967 Mar;57(3):829-34. No abstract available.

2.

A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA.

FALLON HJ, SMITH LH, GRAHAM JB, BURNETT CH.

N Engl J Med. 1964 Apr 23;270:878-81. No abstract available.

PMID:
14110033
3.

Complementation in vivo between structural mutants of alkaline phosphatase from E. coli.

GAREN A, GAREN S.

J Mol Biol. 1963 Jul;7:13-22. No abstract available.

PMID:
13946564
4.

New approaches to the diagnosis and treatment of inborn errors or urea synthesis.

Batshaw ML, Thomas GH, Brusilow SW.

Pediatrics. 1981 Aug;68(2):290-7. No abstract available.

PMID:
7267240
5.

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

Treisman R, Proudfoot NJ, Shander M, Maniatis T.

Cell. 1982 Jul;29(3):903-11.

PMID:
7151176
6.

Abnormal RNA splicing causes one form of alpha thalassemia.

Felber BK, Orkin SH, Hamer DH.

Cell. 1982 Jul;29(3):895-902.

PMID:
7151175
7.

Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase.

Daiger SP, Wildin RS, Su TS.

Nature. 1982 Aug 12;298(5875):682-4. No abstract available.

PMID:
7099264
8.
9.

RNA processing errors in patients with beta-thalassemia.

Ley TJ, Anagnou NP, Pepe G, Nienhuis AW.

Proc Natl Acad Sci U S A. 1982 Aug;79(15):4775-9.

10.
11.

Dispersion of argininosuccinate-synthetase-like human genes to multiple autosomes and the X chromosome.

Beaudet AL, Su TS, O'Brien WE, D'Eustachio P, Barker PE, Ruddle FH.

Cell. 1982 Aug;30(1):287-93.

PMID:
6897015
12.

Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.

Saheki T, Ueda A, Hosoya M, Kusumi K, Takada S, Tsuda M, Katsunuma T.

Clin Chim Acta. 1981 Feb 5;109(3):325-35.

PMID:
6784969
13.

Citrullinaemia: the possibility of prenatal diagnosis.

Christensen E, Brandt NJ, Philip J, Kennaway NG.

J Inherit Metab Dis. 1980;3(3):73-5.

PMID:
6775139
14.

Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line.

Su TS, Bock HG, O'Brien WE, Beaudet AL.

J Biol Chem. 1981 Nov 25;256(22):11826-31.

15.

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.

Kelley WN, Levy RI, Rosenbloom FM, Henderson JF, Seegmiller JE.

J Clin Invest. 1968 Oct;47(10):2281-9.

16.
17.

Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.

Gaull G, Sturman JA, Schaffner F.

J Pediatr. 1974 Mar;84(3):381-90. No abstract available.

PMID:
4811988
18.

8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.

Gillin FD, Roufa DJ, Beaudet AL, Caskey CT.

Genetics. 1972 Oct;72(2):239-52.

19.

A variant form of citrullinemia.

Matsuda I, Anakura M, Arashima S, Saito Y, Oka Y.

J Pediatr. 1976 May;88(5):824-6. No abstract available.

PMID:
1271146
20.

Citrullinemia: enzymatic evidence for genetic heterogeneity.

Kennaway NG, Harwood PJ, Ramberg DA, Koler RD, Buist NR.

Pediatr Res. 1975 Jun;9(6):554-8.

PMID:
1161343
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