142 related articles for article (PubMed ID: 12651832)
41. Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Ahrens MJ; Berry SA; Whitley CB; Markowitz DJ; Plante RJ; Tuchman M
Am J Med Genet; 1996 Dec; 66(3):311-5. PubMed ID: 8985493
[TBL] [Abstract][Full Text] [Related]
42. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
Li Y; Scott CR; Chamoles NA; Ghavami A; Pinto BM; Turecek F; Gelb MH
Clin Chem; 2004 Oct; 50(10):1785-96. PubMed ID: 15292070
[TBL] [Abstract][Full Text] [Related]
43. Short-term stability of amino acids and acylcarnitines in the dried blood spots used to screen newborns for metabolic disorders.
Golbahar J; Altayab DD; Carreon E
J Med Screen; 2014 Mar; 21(1):5-9. PubMed ID: 24531510
[TBL] [Abstract][Full Text] [Related]
44. In vivo measurement of ureagenesis with stable isotopes.
Yudkoff M; Daikhin Y; Ye X; Wilson JM; Batshaw ML
J Inherit Metab Dis; 1998; 21 Suppl 1():21-9. PubMed ID: 9686342
[TBL] [Abstract][Full Text] [Related]
45. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
Rapp B; Häberle J; Linnebank M; Wermuth B; Marquardt T; Harms E; Koch HG
Eur J Pediatr; 2001 May; 160(5):283-7. PubMed ID: 11388595
[TBL] [Abstract][Full Text] [Related]
46. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
deWilde A; Sadilkova K; Sadilek M; Vasta V; Hahn SH
Clin Chem; 2008 Dec; 54(12):1961-8. PubMed ID: 18845768
[TBL] [Abstract][Full Text] [Related]
47. Partial ornithine transcarbamylase deficiency.
Riudor E; Arranz JA; Rodés M
Pediatrics; 2003 May; 111(5 Pt 1):1123-4; author reply 1123-4. PubMed ID: 12728104
[No Abstract] [Full Text] [Related]
48. [Variants of inborn errors of metabolism with late onset but nevertheless life threatening course].
Plöchl E; Plöchl W; Wermuth B; Roscher AA
Klin Padiatr; 2001; 213(5):261-5. PubMed ID: 11582523
[TBL] [Abstract][Full Text] [Related]
49. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
Li S; Cai Y; Shi C; Liu M; Liu B; Lin L; Xiao X; Hao H
Med Sci Monit; 2018 Oct; 24():7431-7437. PubMed ID: 30333473
[TBL] [Abstract][Full Text] [Related]
50. What is your diagnosis? An 18-month-old child with ornithine transcarbamylase deficiency and a rash.
Foster RS; Halbert AR
Pediatr Dermatol; 2011; 28(4):457-8. PubMed ID: 21793886
[No Abstract] [Full Text] [Related]
51. Prenatal diagnosis of ornithine transcarbamylase deficiency.
Bale AE
Prenat Diagn; 1999 Nov; 19(11):1052-4. PubMed ID: 10589058
[No Abstract] [Full Text] [Related]
52. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Brusilow SW
J Clin Invest; 1984 Dec; 74(6):2144-8. PubMed ID: 6511918
[TBL] [Abstract][Full Text] [Related]
53. Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency.
Peterson DE
Obstet Gynecol; 2003 Nov; 102(5 Pt 2):1212-5. PubMed ID: 14607061
[TBL] [Abstract][Full Text] [Related]
54. Early intervention for late-onset ornithine transcarbamylase deficiency.
Fujisawa D; Mitsubuchi H; Matsumoto S; Iwai M; Nakamura K; Hoshide R; Harada N; Yoshino M; Endo F
Pediatr Int; 2015; 57(1):e1-3. PubMed ID: 25711267
[TBL] [Abstract][Full Text] [Related]
55. Ornithine transcarbamylase deficiency presenting as hepatitis.
Aronson PL; Mistry RD
Pediatr Emerg Care; 2011 Jun; 27(6):527-9. PubMed ID: 21642786
[TBL] [Abstract][Full Text] [Related]
56. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
la Marca G; Malvagia S; Pasquini E; Innocenti M; Donati MA; Zammarchi E
Clin Chem; 2007 Jul; 53(7):1364-9. PubMed ID: 17510301
[TBL] [Abstract][Full Text] [Related]
57. Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.
Chan JS; Harding CO; Blanke CD
South Med J; 2008 May; 101(5):543-5. PubMed ID: 18414167
[TBL] [Abstract][Full Text] [Related]
58. Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.
Qureshi IA; Letarte J; Ouellet R
Adv Exp Med Biol; 1982; 153():173-83. PubMed ID: 7164896
[No Abstract] [Full Text] [Related]
59. Application of electrospray tandem mass spectrometry to neonatal screening.
Rashed MS; Rahbeeni Z; Ozand PT
Semin Perinatol; 1999 Apr; 23(2):183-93. PubMed ID: 10331469
[TBL] [Abstract][Full Text] [Related]
60. Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone.
Sander J; Janzen N; Peter M; Sander S; Steuerwald U; Holtkamp U; Schwahn B; Mayatepek E; Trefz FK; Das AM
Clin Chem; 2006 Mar; 52(3):482-7. PubMed ID: 16439608
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
