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 *

154 related articles for article (PubMed ID: 34513067)

  • 1. Diagnostics of Inherited Metabolic Diseases in Newborns with the Hyperammonemia Syndrome at the Onset of Disease (Pilot Study).
    Kolchina AN; Yatsyshina EE; Malysheva LV; Ledentsova EE; Lidyaeva EE; Khaletskaya OV
    Sovrem Tekhnologii Med; 2021; 13(1):59-64. PubMed ID: 34513067
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Clinical analysis of 15 851 children at risk of inherited metabolic diseases].
    Lin SX; Shu JB; Wang C; Pan R; Meng YT; Zhang CH; Zhang BL; Wang D; Zhang YQ
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Dec; 19(12):1243-1247. PubMed ID: 29237523
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for.
    Eminoğlu FT; Koç Yekedüz M; Doğulu N; Öncül Ü; Köse E; Okulu E; Erdeve Ö; Atasay B; Arsan S
    Pediatr Int; 2022 Jan; 64(1):e14953. PubMed ID: 34390086
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. [Clinical and laboratory screening studies on urea cycle defects].
    Yang YL; Sun F; Qian N; Song JQ; Wang S; Chang XZ; Yang HY; Wang SQ; Li L; Zhang YH; Bao XH; Li M; Qi Y; Qin J; Wu XR
    Zhonghua Er Ke Za Zhi; 2005 May; 43(5):331-4. PubMed ID: 15924745
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
    Gallant NM; Leydiker K; Wilnai Y; Lee C; Lorey F; Feuchtbaum L; Tang H; Carter J; Enns GM; Packman S; Lin HJ; Wilcox WR; Cederbaum SD; Abdenur JE
    Mol Genet Metab; 2017 Nov; 122(3):76-84. PubMed ID: 28711408
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
    Bower A; Imbard A; Benoist JF; Pichard S; Rigal O; Baud O; Schiff M
    Sci Rep; 2019 Oct; 9(1):14098. PubMed ID: 31575911
    [TBL] [Abstract][Full Text] [Related]  

  • 9. What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.
    Goetz V; Yang DD; Lacaille F; Pelosi M; Angoulvant F; Brassier A; Arnoux JB; Schiff M; Heilbronner C; Salvador E; Debray D; Oualha M; Renolleau S; Girard M; de Lonlay P
    Mol Genet Metab; 2022 Apr; 135(4):320-326. PubMed ID: 35221207
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
    Ko JM; Park KS; Kang Y; Nam SH; Kim Y; Park I; Chae HW; Lee SM; Lee KA; Kim JW
    Yonsei Med J; 2018 Jul; 59(5):652-661. PubMed ID: 29869463
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hyperammonemia in Inherited Metabolic Diseases.
    Ribas GS; Lopes FF; Deon M; Vargas CR
    Cell Mol Neurobiol; 2022 Nov; 42(8):2593-2610. PubMed ID: 34665389
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of transient hyperammonemia in the newborn transient neonatal hyperammonemia.
    Stojanovic VD; Doronjski AR; Barisic N; Kovacevic BB; Pavlovic VS
    J Matern Fetal Neonatal Med; 2010 Apr; 23(4):347-50. PubMed ID: 19658037
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Application of mass spectrometry combined with next generation sequencing in the diagnosis of neonatal inherited metabolic diseases].
    Jiang WX; Chen LP; Li H; Guo ZB; Yuan Y; Zhou B; Lu WQ; Yang L; Wu BB; Zhou ML
    Zhonghua Yi Xue Za Zhi; 2020 Jun; 100(21):1640-1647. PubMed ID: 32486599
    [No Abstract]   [Full Text] [Related]  

  • 14. Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit.
    Teixeira C; Cordeiro C; Pinto C; Diogo L
    J Mother Child; 2023 Jun; 27(1):55-63. PubMed ID: 37843971
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Martinelli D; Diodato D; Ponzi E; Monné M; Boenzi S; Bertini E; Fiermonte G; Dionisi-Vici C
    Orphanet J Rare Dis; 2015 Mar; 10():29. PubMed ID: 25874378
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.
    Zhang Z; Tong F; Chen C; Zhang T; Qian G; Yang X; Huang X; Yang R; Zhao Z
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2023 Nov; 52(6):721-726. PubMed ID: 37986659
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A glance at transient hyperammonemia of the newborn: Pathophysiology, diagnosis, and treatment: A review.
    Ni B; Qin M; Zhao J; Guo Q
    Medicine (Baltimore); 2022 Dec; 101(48):e31796. PubMed ID: 36482558
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
    Kirchberg I; Lainka E; Gangfuß A; Kuechler A; Baertling F; Schlieben LD; Lenz D; Tschiedel E
    Front Pediatr; 2024; 12():1278047. PubMed ID: 38445077
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Newborn screening for primary carnitine deficiency and variant spectrum of SLC22A5 gene in Guangzhou].
    Huang YL; Tang CF; Liu SC; Sheng HY; Tang F; Jiang X; Zheng RD; Mei HF; Liu L
    Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):476-481. PubMed ID: 32521959
    [No Abstract]   [Full Text] [Related]  

  • 20. [Application of continuous renal replacement therapy in the treatment of neonates with inherited metabolic diseases].
    Hu Y; Peng XM; Xiao ZH
    Zhongguo Dang Dai Er Ke Za Zhi; 2021 May; 23(5):488-493. PubMed ID: 34020739
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.