These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 20236848)

  • 21. Neonatal screening for citrullinaemia.
    Sander J; Janzen N; Sander S; Steuerwald U; Das AM; Scholl S; Trefz FK; Koch HG; Häberle J; Korall H; Marquardt I; Korenke C
    Eur J Pediatr; 2003 Jun; 162(6):417-20. PubMed ID: 12684898
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency.
    Raturi S; Venkatesh IH; Nagesh NK; Venkatagiri P
    Indian J Pediatr; 2013 Sep; 80(9):794-5. PubMed ID: 23539248
    [No Abstract]   [Full Text] [Related]  

  • 23. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
    Talbot HW; Sumlin AB; Naylor EW; Guthrie R
    Pediatrics; 1982 Oct; 70(4):526-31. PubMed ID: 7122151
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in
    Zhao M; Hou L; Teng H; Li J; Wang J; Zhang K; Yang L
    Biomed Res Int; 2019; 2019():3530198. PubMed ID: 31183366
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Citrullinemia. Clinical experience with 23 cases.
    Tokatli A; Coşkun T; Ozalp I
    Turk J Pediatr; 1998; 40(2):185-93. PubMed ID: 9677723
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency.
    Stéphenne X; Najimi M; Sibille C; Nassogne MC; Smets F; Sokal EM
    Gastroenterology; 2006 Apr; 130(4):1317-23. PubMed ID: 16618422
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
    Mandell R; Packman S; Laframboise R; Golbus MS; Schmidt K; Workman L; Saudubray JM; Shih VE
    Prenat Diagn; 1996 May; 16(5):419-24. PubMed ID: 8843999
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Citrullinemia and argininosuccinic aciduria].
    Kawamura M
    Nihon Rinsho; 1978 May; Suppl():1354-5. PubMed ID: 691352
    [No Abstract]   [Full Text] [Related]  

  • 29. Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
    Diez-Fernandez C; Hertig D; Loup M; Diserens G; Henry H; Vermathen P; Nuoffer JM; Häberle J; Braissant O
    J Inherit Metab Dis; 2019 Nov; 42(6):1077-1087. PubMed ID: 30907007
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.
    Nagayoshi Y; Nakayama M; Nagano H; Morikawa K; Nishi M; Nishihara T; Sakaino N; Kawano H; Tsujita K; Mitsubuchi H
    Am J Cardiol; 2023 Apr; 192():155-159. PubMed ID: 36807131
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition.
    Renner C; Sewell AC; Bervoets K; Förster H; Böhles H
    Eur J Pediatr; 1995 Nov; 154(11):909-14. PubMed ID: 8582405
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Aciduria argininosuccínica: informe de un caso de inicio neonatal].
    P Zuza M; Gerbaudo G; O Molina S; Pereyra M
    Arch Argent Pediatr; 2021 Oct; 119(5):e508-e512. PubMed ID: 34569752
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.
    Ediger K; Hicks A; Siriwardena K; Joynt C
    BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33789861
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Epilepsy and argininosuccinic aciduria.
    Grioni D; Furlan F; Corbetta C; Barboni C; Lastrico A; Marzocchi GM; Contri M; Gamba A; Vizziello P; Parini R
    Neuropediatrics; 2011 Jun; 42(3):97-103. PubMed ID: 21744316
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.
    Nagasaka H; Tsukahara H; Yorifuji T; Miida T; Murayama K; Tsuruoka T; Takatani T; Kanazawa M; Kobayashi K; Okano Y; Takayanagi M
    Metabolism; 2009 Mar; 58(3):278-82. PubMed ID: 19217439
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Therapy of urea cycle enzymopathies: three case studies.
    Batshaw ML; Painter MJ; Sproul GT; Schafer IA; Thomas GH; Brusilow S
    Johns Hopkins Med J; 1981 Jan; 148(1):34-40. PubMed ID: 7453005
    [No Abstract]   [Full Text] [Related]  

  • 37. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
    Batshaw ML; Brusilow S; Waber L; Blom W; Brubakk AM; Burton BK; Cann HM; Kerr D; Mamunes P; Matalon R; Myerberg D; Schafer IA
    N Engl J Med; 1982 Jun; 306(23):1387-92. PubMed ID: 7078580
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Screening of newborns for argininosuccinase deficiency. First experiences in Austria (author's transl)].
    Schön R; Thalhammer O
    Monatsschr Kinderheilkd (1902); 1977 Aug; 125(8):774-6. PubMed ID: 904636
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
    Kim D; Ko JM; Kim YM; Seo GH; Kim GH; Lee BH; Yoo HW
    J Hum Genet; 2018 Jul; 63(8):911-917. PubMed ID: 29773863
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
    Stockler-Ipsiroglu S; van Karnebeek C; Longo N; Korenke GC; Mercimek-Mahmutoglu S; Marquart I; Barshop B; Grolik C; Schlune A; Angle B; Araújo HC; Coskun T; Diogo L; Geraghty M; Haliloglu G; Konstantopoulou V; Leuzzi V; Levtova A; Mackenzie J; Maranda B; Mhanni AA; Mitchell G; Morris A; Newlove T; Renaud D; Scaglia F; Valayannopoulos V; van Spronsen FJ; Verbruggen KT; Yuskiv N; Nyhan W; Schulze A
    Mol Genet Metab; 2014 Jan; 111(1):16-25. PubMed ID: 24268530
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.