142 related articles for article (PubMed ID: 12651832)
21. An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
Quintero-Rivera F; Deignan JL; Peredo J; Grody WW; Crandall B; Sims M; Cederbaum SD
Mol Genet Metab; 2010 Dec; 101(4):413-6. PubMed ID: 20817516
[TBL] [Abstract][Full Text] [Related]
22. Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information.
Oexle K
J Hum Genet; 2006; 51(3):204-208. PubMed ID: 16453063
[TBL] [Abstract][Full Text] [Related]
23. Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.
Harada E; Nishiyori A; Tokunaga Y; Watanabe Y; Kuriya N; Kumashiro R; Kuno T; Kuromaru R; Hirose S; Ichikawa K; Yoshino M
Pediatr Int; 2006 Apr; 48(2):105-11. PubMed ID: 16635166
[TBL] [Abstract][Full Text] [Related]
24. Curative Treatment of Ornithine Transcarbamylase Deficiency With a Liver Transplant: A Case Report.
Shamsaeefar A; Nikeghbalian S; Dehghani SM; Kazemi K; Motazedian N; Geramizadeh B; Malekhosseini SA
Exp Clin Transplant; 2019 Feb; 17(1):119-120. PubMed ID: 27447480
[TBL] [Abstract][Full Text] [Related]
25. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
Wang D; Wood T; Sadilek M; Scott CR; Turecek F; Gelb MH
Clin Chem; 2007 Jan; 53(1):137-40. PubMed ID: 17082248
[TBL] [Abstract][Full Text] [Related]
26. Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier.
Al-Haggar M; Largiadèr CR; Abdel-Hady D; Barakat T; Nuoffer JM; Al-Refaei AA
Int J Gynaecol Obstet; 2014 Feb; 124(2):174-5. PubMed ID: 24268225
[No Abstract] [Full Text] [Related]
27. Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Feldmann D; Rozet JM; Pelet A; Hentzen D; Briand P; Hubert P; Largilliere C; Rabier D; Farriaux JP; Munnich A
J Med Genet; 1992 Jul; 29(7):471-5. PubMed ID: 1353535
[TBL] [Abstract][Full Text] [Related]
28. Ornithine transcarbamylase deficiency presenting with acute reversible cortical blindness.
Prasun P; Altinok D; Misra VK
J Child Neurol; 2015 May; 30(6):782-5. PubMed ID: 24850570
[TBL] [Abstract][Full Text] [Related]
29. Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
Zammarchi E; Donati MA; Filippi L; Resti M
J Pediatr Gastroenterol Nutr; 1996 May; 22(4):380-3. PubMed ID: 8732901
[TBL] [Abstract][Full Text] [Related]
30. Neonatal debut of ornithine transcarbamylase deficiency with severe hyperammoniemia.
Lepe Balsalobre E; Cabra Rodríguez R; Maesa Márquez JM
Med Clin (Barc); 2021 Jun; 156(12):632-633. PubMed ID: 32493619
[No Abstract] [Full Text] [Related]
31. Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
Wilson CJ; Lee PJ; Leonard JV
J Inherit Metab Dis; 2001 Dec; 24(7):691-5. PubMed ID: 11804205
[TBL] [Abstract][Full Text] [Related]
32. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.
Gelb MH; Turecek F; Scott CR; Chamoles NA
J Inherit Metab Dis; 2006; 29(2-3):397-404. PubMed ID: 16763908
[TBL] [Abstract][Full Text] [Related]
33. Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Jiang Y; Almannai M; Sutton VR; Sun Q; Elsea SH
Mol Genet Metab; 2017 Nov; 122(3):39-45. PubMed ID: 28888854
[TBL] [Abstract][Full Text] [Related]
34. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
Krijt J; Sokolová J; Ješina P; Dvořáková L; Řeboun M; Brennerová K; Mistrík M; Zeman J; Honzík T; Kožich V
Clin Chem Lab Med; 2017 Jul; 55(8):1168-1177. PubMed ID: 28107167
[TBL] [Abstract][Full Text] [Related]
35. Teaching NeuroImages: Ornithine transcarbamylase deficiency revealed by a coma in a pregnant woman.
Bailly P; Noury JB; Timsit S; Ben Salem D
Neurology; 2015 Nov; 85(20):e146-7. PubMed ID: 26574542
[No Abstract] [Full Text] [Related]
36. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.
Chace DH; Kalas TA; Naylor EW
Annu Rev Genomics Hum Genet; 2002; 3():17-45. PubMed ID: 12142359
[TBL] [Abstract][Full Text] [Related]
37. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K; Nuoffer JM; Mühlhausen C; Klaus V; Largiadèr CR; Tsiakas K; Santer R; Wermuth B; Häberle J
Mol Genet Metab; 2008 Jul; 94(3):292-7. PubMed ID: 18440262
[TBL] [Abstract][Full Text] [Related]
38. Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies.
Rohininath T; Costello DJ; Lynch T; Monavari A; Tuchman M; Treacy EP
J Inherit Metab Dis; 2004; 27(2):285-8. PubMed ID: 15243986
[TBL] [Abstract][Full Text] [Related]
39. Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Brassier A; Gobin S; Arnoux JB; Valayannopoulos V; Habarou F; Kossorotoff M; Servais A; Barbier V; Dubois S; Touati G; Barouki R; Lesage F; Dupic L; Bonnefont JP; Ottolenghi C; De Lonlay P
Orphanet J Rare Dis; 2015 May; 10():58. PubMed ID: 25958381
[TBL] [Abstract][Full Text] [Related]
40. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH; Lee BH; Kim JH; Kim GH; Kim YM; Cho J; Cheon CK; Ko JM; Lee JH; Yoo HW
J Hum Genet; 2015 Sep; 60(9):501-7. PubMed ID: 25994866
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]