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Results: 1 to 20 of 94

Similar articles for PubMed (Select 4117228)

1.

X-linked transmission of ornithine-transcarbamylase deficiency.

Scott CR, Teng CC, Goodman SI, Greensher A, Mace JW.

Lancet. 1972 Nov 25;2(7787):1148. No abstract available.

PMID:
4117228
2.

X-linked transmission of structural gene mutations responsible for ornithine-transcarbamylase deficiencies.

Cathelineau L, Navarro J, Polonovski C, Saudubray JM.

Lancet. 1973 Feb 3;1(7797):261-2. No abstract available.

PMID:
4119401
3.
4.

Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.

Goldstein AS, Hoogenraad NJ, Johnson JD, Fukanaga K, Swierczewski E, Cann HM, Sunshine P.

Pediatr Res. 1974 Jan;8(1):5-12. No abstract available.

PMID:
4809308
5.

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM.

J Inherit Metab Dis. 1997 Aug;20(4):525-7.

PMID:
9266388
6.

Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity.

Saudubray JM, Cathelineau L, Laugier JM, Charpentier C, Lejeune JA, Mozziconacci P.

Acta Paediatr Scand. 1975 May;64(3):464-72.

PMID:
168725
7.

Ornithine transcarbamylase deficiency in the newborn infant.

Kang ES, Snodgrass PJ, Gerald PS.

J Pediatr. 1973 Apr;82(4):642-9. No abstract available.

PMID:
4698340
8.

Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.

Levin B, Abraham JM, Oberholzer VG, Burgess EA.

Arch Dis Child. 1969 Apr;44(234):152-61. No abstract available.

9.

Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.

Levin B, Dobbs RH, Burgess EA, Palmer T.

Arch Dis Child. 1969 Apr;44(234):162-9. No abstract available.

10.

[Hyperammonemia due to an inborn error of metabolism. Ornithine-transcarbamylase deficiency].

Chevrel B.

Presse Med. 1969 Sep 27;77(40):1370. French. No abstract available.

PMID:
5821578
11.

Ornithine transcarbamylase deficiency: a model for gene therapy.

Morsy MA, Caskey CT.

Adv Exp Med Biol. 1994;368:145-54. Review. No abstract available.

PMID:
7741006
12.

[Ornithine-transcarbamylase deficiency: prognostic difficulties].

Sanjurjo Crespo P, Sasieta Altuna M, Rubio Zamora V, Prats Viñas JM, Vallo Boado A.

An Esp Pediatr. 1991 Dec;35(6):407-8. Spanish.

PMID:
1793191
13.

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.

Gilbert-Dussardier B, Segues B, Rozet JM, Rabier D, Calvas P, de Lumley L, Bonnefond JP, Munnich A.

Hum Mutat. 1996;8(1):74-6. No abstract available.

PMID:
8807340
14.

[Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase].

Cathelineau L, Navarro J, Aymard P, Baudon JJ, Mondet Y, Polonovski C, Laplane R.

Arch Fr Pediatr. 1972 Aug-Sep;29(7):713-36. French. No abstract available.

PMID:
4644461
15.

[Chromosome X transmission of the ornithine-carbamyl-transferase structural gene. A study of 3 families].

Cathelineau L, Saudubray JM, Navarro J, Polonovski C.

Ann Genet. 1973 Sep;16(3):173-82. French. No abstract available.

PMID:
4543206
16.

Hyperammonemia: a deficiency of liver ornithine transcarbamylase.

Nagayama E, Kitayama T, Oguchi H, Ogata K, Tamura E.

Paediatr Univ Tokyo. 1970 Dec;18:167-73. No abstract available.

PMID:
5514641
17.

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.

Staudt M, Wermuth B, Freisinger P, Hässler A, Pontz BF.

J Inherit Metab Dis. 1998 Feb;21(1):71-2. No abstract available.

PMID:
9501271
18.

Structural organization of the human ornithine transcarbamylase gene.

Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I.

J Inherit Metab Dis. 1988;11(3):337-40. No abstract available.

PMID:
3148085
19.

Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.

Campbell AG, Rosenberg LE, Snodgrass PJ, Nuzum CT.

Lancet. 1971 Jul 24;2(7717):217-8. No abstract available.

PMID:
4104881
20.

Mass spectrometry in disorders of organic acid metabolism.

Niwa T.

Clin Chim Acta. 1995 Oct-Nov;241-242:293-384. No abstract available.

PMID:
8612342
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