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 *

549 related articles for article (PubMed ID: 30982989)

  • 21. Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.
    Waisbren SE; Stefanatos AK; Kok TMY; Ozturk-Hismi B
    J Inherit Metab Dis; 2019 Nov; 42(6):1176-1191. PubMed ID: 31268178
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
    Unsinn C; Das A; Valayannopoulos V; Thimm E; Beblo S; Burlina A; Konstantopoulou V; Mayorandan S; de Lonlay P; Rennecke J; Derbinski J; Hoffmann GF; Häberle J
    Orphanet J Rare Dis; 2016 Aug; 11(1):116. PubMed ID: 27538463
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
    Kido J; Matsumoto S; Ito T; Hirose S; Fukui K; Kojima-Ishii K; Mushimoto Y; Yoshida S; Ishige M; Sakai N; Nakamura K
    Mol Genet Metab Rep; 2021 Jun; 27():100724. PubMed ID: 33614409
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Ono H; Tamada T; Shigematsu Y
    Pediatr Int; 2018 Aug; 60(8):762-764. PubMed ID: 30058227
    [No Abstract]   [Full Text] [Related]  

  • 25. Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.
    Ah Mew N; Krivitzky L; McCarter R; Batshaw M; Tuchman M;
    J Pediatr; 2013 Feb; 162(2):324-9.e1. PubMed ID: 22901741
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.
    Kido J; Matsumoto S; Mitsubuchi H; Endo F; Nakamura K
    Metab Brain Dis; 2018 Oct; 33(5):1517-1523. PubMed ID: 29948653
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
    Kölker S; Garcia-Cazorla A; Valayannopoulos V; Lund AM; Burlina AB; Sykut-Cegielska J; Wijburg FA; Teles EL; Zeman J; Dionisi-Vici C; Barić I; Karall D; Augoustides-Savvopoulou P; Aksglaede L; Arnoux JB; Avram P; Baumgartner MR; Blasco-Alonso J; Chabrol B; Chakrapani A; Chapman K; I Saladelafont EC; Couce ML; de Meirleir L; Dobbelaere D; Dvorakova V; Furlan F; Gleich F; Gradowska W; Grünewald S; Jalan A; Häberle J; Haege G; Lachmann R; Laemmle A; Langereis E; de Lonlay P; Martinelli D; Matsumoto S; Mühlhausen C; de Baulny HO; Ortez C; Peña-Quintana L; Ramadža DP; Rodrigues E; Scholl-Bürgi S; Sokal E; Staufner C; Summar ML; Thompson N; Vara R; Pinera IV; Walter JH; Williams M; Burgard P
    J Inherit Metab Dis; 2015 Nov; 38(6):1041-57. PubMed ID: 25875215
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
    Zhou Q; Huang H; Ma L; Zhu T
    Biomed Res Int; 2020; 2020():5690915. PubMed ID: 32934962
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition.
    Wells DL; Thomas JB; Sacks GS; Zouhary LA
    Nutrition; 2014; 30(7-8):943-7. PubMed ID: 24985015
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.
    Olgac A; Kasapkara ÇS; Kilic M; Emine Derinkuyu B; Azapagasi E; Kesici S; Biberoğlu G; Ozyazici A; Karaca M; Haberle J
    Arch Argent Pediatr; 2020 Dec; 118(6):e545-e548. PubMed ID: 33231058
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
    Longo N; Diaz GA; Lichter-Konecki U; Schulze A; Inbar-Feigenberg M; Conway RL; Bannick AA; McCandless SE; Zori R; Hainline B; Ah Mew N; Canavan C; Vescio T; Kok T; Porter MH; Berry SA
    Mol Genet Metab; 2021 Jan; 132(1):19-26. PubMed ID: 33388234
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
    Kido J; Matsumoto S; Sugawara K; Sawada T; Nakamura K
    Am J Med Genet A; 2021 Jul; 185(7):2026-2036. PubMed ID: 33851512
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Hereditary urea cycle diseases in Finland.
    Keskinen P; Siitonen A; Salo M
    Acta Paediatr; 2008 Oct; 97(10):1412-9. PubMed ID: 18616627
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Diagnosis and treatment of urea cycle disorder in Japan.
    Nakamura K; Kido J; Mitsubuchi H; Endo F
    Pediatr Int; 2014 Aug; 56(4):506-9. PubMed ID: 25039902
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
    Cavicchi C; Chilleri C; Fioravanti A; Ferri L; Ripandelli F; Costa C; Calabresi P; Prontera P; Pochiero F; Pasquini E; Funghini S; la Marca G; Donati MA; Morrone A
    Int J Mol Sci; 2018 Jan; 19(2):. PubMed ID: 29364180
    [No Abstract]   [Full Text] [Related]  

  • 36. Chronic liver involvement in urea cycle disorders.
    Ranucci G; Rigoldi M; Cotugno G; Bernabei SM; Liguori A; Gasperini S; Goffredo BM; Martinelli D; Monti L; Francalanci P; Candusso M; Parini R; Dionisi-Vici C
    J Inherit Metab Dis; 2019 Nov; 42(6):1118-1127. PubMed ID: 31260111
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
    Toquet S; Spodenkiewicz M; Douillard C; Maillot F; Arnoux JB; Damaj L; Odent S; Moreau C; Redonnet-Vernhet I; Mesli S; Servais A; Noel E; Charriere S; Rigalleau V; Lavigne C; Kaphan E; Roubertie A; Besson G; Bigot A; Servettaz A; Mochel F; Garnotel R
    J Inherit Metab Dis; 2021 Sep; 44(5):1199-1214. PubMed ID: 34014557
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Primary hyperammonaemia: Current diagnostic and therapeutic strategies.
    Häberle J
    J Mother Child; 2020 Oct; 24(2):32-38. PubMed ID: 33179600
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.
    Silfverberg T; Sahlander F; Enlund M; Oscarson M; Hårdstedt M
    J Med Case Rep; 2018 Sep; 12(1):274. PubMed ID: 30243302
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.
    Ibarra-González I; Fernández-Lainez C; Vela-Amieva M
    Clin Biochem; 2010 Mar; 43(4-5):461-6. PubMed ID: 20025860
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 28.