168 related articles for article (PubMed ID: 6820412)
1. Carrier detection in ornithine transcarbamylase deficiency.
Haan EA; Danks DM; Grimes A; Hoogenraad NJ
J Inherit Metab Dis; 1982; 5(1):37-40. PubMed ID: 6820412
[TBL] [Abstract][Full Text] [Related]
2. [Genetic counseling in ornithine carbamoyltransferase deficiency].
Pelet A; Toumas E; Rabier D; Kaplan J; Kamoun P; Frezal J; Saudubray JM; Munnich A
Ann Biol Clin (Paris); 1988; 46(7):455-9. PubMed ID: 2903704
[TBL] [Abstract][Full Text] [Related]
3. [A new family with mutation of the structural gene of human ornithine carbamoyltransferase].
Stoll C; Bieth R; Dreyfus J; Flori E; Lutz P; Levy JM
Arch Fr Pediatr; 1978 May; 35(5):512-8. PubMed ID: 678030
[TBL] [Abstract][Full Text] [Related]
4. Ornithine transcarbamylase deficiency in male adolescence and adulthood.
Yoshino M; Nishiyori J; Yamashita F; Kumashiro R; Abe H; Tanikawa K; Ohno T; Nakao K; Kaku N; Fukushima H
Enzyme; 1990; 43(3):160-8. PubMed ID: 2095337
[TBL] [Abstract][Full Text] [Related]
5. Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.
Pelet A; Rotig A; Bonaïti-Pellié C; Rabier D; Cormier V; Toumas E; Hentzen D; Saudubray JM; Munnich A
Hum Genet; 1990 Jan; 84(2):167-71. PubMed ID: 2298453
[TBL] [Abstract][Full Text] [Related]
6. Importance of ornithine transcarbamylase (OTC) deficiency in small intestine for urinary orotic acid excretion: analysis of OTC-deficient spf-ash mice with OTC transgene.
Saheki T; Mori K; Kobayashi K; Horiuchi M; Shige T; Obara T; Suzuki S; Mori M; Yamamura K
Biochim Biophys Acta; 1995 Jan; 1270(1):87-93. PubMed ID: 7827141
[TBL] [Abstract][Full Text] [Related]
7. The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency.
Sebesta I; Krijt J; Fairbanks LD; Simmonds HA
J Inherit Metab Dis; 1994; 17(1):133-4. PubMed ID: 8051924
[No Abstract] [Full Text] [Related]
8. Study of enzyme defect in a case of ornithine transcarbamylase deficiency.
Qureshi IA; Letarte J; Quellet R
Diabete Metab; 1978 Dec; 4(4):239-41. PubMed ID: 729890
[TBL] [Abstract][Full Text] [Related]
9. DNA analysis of ornithine transcarbamylase deficiency.
Wendel U; Wilichowski E; Schmidtke J; Bachmann C
Eur J Pediatr; 1988 May; 147(4):368-71. PubMed ID: 2899508
[TBL] [Abstract][Full Text] [Related]
10. Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
Barshop BA; Nyhan WL; Climent C; Rubio V
J Inherit Metab Dis; 2001 Aug; 24(4):513-4. PubMed ID: 11596657
[No Abstract] [Full Text] [Related]
11. Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.
Sumi S; Matsuura T; Kidouchi K; Togari H; Kubota M; Kitou O; Mikami H; Ohura T; Matsuda I; Wada Y
Int J Mol Med; 2000 Aug; 6(2):177-80. PubMed ID: 10891562
[TBL] [Abstract][Full Text] [Related]
12. Ornithine transcarbamylase variant in a male patient.
Stöckler S; Grossschädl F; Bachmann C; Roscher A
J Inherit Metab Dis; 1987; 10(3):272. PubMed ID: 3123789
[No Abstract] [Full Text] [Related]
13. Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.
Becroft DM; Barry DM; Webster DR; Simmonds HA
J Inherit Metab Dis; 1984; 7(4):157-9. PubMed ID: 6441862
[TBL] [Abstract][Full Text] [Related]
14. How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?
Grünewald S; Fairbanks L; Genet S; Cranston T; Hüsing J; Leonard JV; Champion MP
J Inherit Metab Dis; 2004; 27(2):179-86. PubMed ID: 15159648
[TBL] [Abstract][Full Text] [Related]
15. Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.
Hauser ER; Finkelstein JE; Valle D; Brusilow SW
N Engl J Med; 1990 Jun; 322(23):1641-5. PubMed ID: 2342523
[TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
Demmer LA; Kim JM; de Martinville B; Dowton SB
Hum Mutat; 1996; 7(3):279. PubMed ID: 8829665
[No Abstract] [Full Text] [Related]
17. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
Tsai MY; Holzknecht RA; Tuchman M
Hum Genet; 1993 May; 91(4):321-5. PubMed ID: 8099056
[TBL] [Abstract][Full Text] [Related]
18. Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.
Sugahara G; Yamasaki C; Yanagi A; Furukawa S; Ogawa Y; Fukuda A; Enosawa S; Umezawa A; Ishida Y; Tateno C
J Inherit Metab Dis; 2021 May; 44(3):618-628. PubMed ID: 33336822
[TBL] [Abstract][Full Text] [Related]
19. Carrier detection in ornithine transcarbamylase deficiency.
Hokanson JT; O'Brien WE; Idemoto J; Schafer IA
J Pediatr; 1978 Jul; 93(1):75-8. PubMed ID: 650350
[No Abstract] [Full Text] [Related]
20. Transient hyperammonemia during aging in ornithine transcarbamylase-deficient, sparse-fur mice.
Gushiken T; Yoshimura N; Saheki T
Biochem Int; 1985 Nov; 11(5):637-43. PubMed ID: 4091843
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]