BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 36221165)

  • 1. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
    Boy N; Mühlhausen C; Maier EM; Ballhausen D; Baumgartner MR; Beblo S; Burgard P; Chapman KA; Dobbelaere D; Heringer-Seifert J; Fleissner S; Grohmann-Held K; Hahn G; Harting I; Hoffmann GF; Jochum F; Karall D; Konstantopoulous V; Krawinkel MB; Lindner M; Märtner EMC; Nuoffer JM; Okun JG; Plecko B; Posset R; Sahm K; Scholl-Bürgi S; Thimm E; Walter M; Williams M; Vom Dahl S; Ziagaki A; Zschocke J; Kölker S
    J Inherit Metab Dis; 2023 May; 46(3):482-519. PubMed ID: 36221165
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
    Boy N; Mühlhausen C; Maier EM; Heringer J; Assmann B; Burgard P; Dixon M; Fleissner S; Greenberg CR; Harting I; Hoffmann GF; Karall D; Koeller DM; Krawinkel MB; Okun JG; Opladen T; Posset R; Sahm K; Zschocke J; Kölker S;
    J Inherit Metab Dis; 2017 Jan; 40(1):75-101. PubMed ID: 27853989
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnosis and management of glutaric aciduria type I--revised recommendations.
    Kölker S; Christensen E; Leonard JV; Greenberg CR; Boneh A; Burlina AB; Burlina AP; Dixon M; Duran M; García Cazorla A; Goodman SI; Koeller DM; Kyllerman M; Mühlhausen C; Müller E; Okun JG; Wilcken B; Hoffmann GF; Burgard P
    J Inherit Metab Dis; 2011 Jun; 34(3):677-94. PubMed ID: 21431622
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.
    Biagosch C; Ediga RD; Hensler SV; Faerberboeck M; Kuehn R; Wurst W; Meitinger T; Kölker S; Sauer S; Prokisch H
    Biochim Biophys Acta Mol Basis Dis; 2017 Sep; 1863(9):2220-2228. PubMed ID: 28545977
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
    Kölker S; Boy SP; Heringer J; Müller E; Maier EM; Ensenauer R; Mühlhausen C; Schlune A; Greenberg CR; Koeller DM; Hoffmann GF; Haege G; Burgard P
    Mol Genet Metab; 2012 Sep; 107(1-2):72-80. PubMed ID: 22520952
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
    Wang Q; Yang YL
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 May; 18(5):460-5. PubMed ID: 27165598
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
    Schillaci LA; Greene CL; Strovel E; Rispoli-Joines J; Spector E; Woontner M; Scharer G; Enns GM; Gallagher R; Zinn AB; McCandless SE; Hoppel CL; Goodman SI; Bedoyan JK
    Mol Genet Metab; 2016 Sep; 119(1-2):50-6. PubMed ID: 27397597
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inherited Disorders of Lysine Metabolism: A Review.
    Bouchereau J; Schiff M
    J Nutr; 2020 Oct; 150(Suppl 1):2556S-2560S. PubMed ID: 33000154
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
    Gelener P; Severino M; Diker S; Teralı K; Tuncel G; Tuzlalı H; Manara E; Paolacci S; Bertelli M; Ergoren MC
    Neurogenetics; 2020 Jul; 21(3):179-186. PubMed ID: 32306145
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
    Märtner EMC; Maier EM; Mengler K; Thimm E; Schiergens KA; Marquardt T; Santer R; Weinhold N; Marquardt I; Das AM; Freisinger P; Grünert SC; Vossbeck J; Steinfeld R; Baumgartner MR; Beblo S; Dieckmann A; Näke A; Lindner M; Heringer-Seifert J; Lenz D; Hoffmann GF; Mühlhausen C; Ensenauer R; Garbade SF; Kölker S; Boy N
    J Inherit Metab Dis; 2021 May; 44(3):629-638. PubMed ID: 33274439
    [TBL] [Abstract][Full Text] [Related]  

  • 11. GAI - distinct genotype and phenotype characteristics in reported Slovak patients.
    Lisyova J; Petrovic R; Jurickova K; Brennerova K; Urbanova D; Behulova D; Bzduch V; Chandoga J
    Bratisl Lek Listy; 2016; 117(11):631-638. PubMed ID: 28125888
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
    Del Rizzo M; Galderisi A; Celato A; Furlan F; Giordano L; Cazzorla C; Fasan I; Moretti C; Zschocke J; Burlina AB
    Eur J Pediatr; 2016 Aug; 175(8):1123-8. PubMed ID: 26847429
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
    Zhang Y; Li H; Ma R; Mei L; Wei X; Liang D; Wu L
    Clin Chim Acta; 2016 Jan; 453():75-9. PubMed ID: 26656312
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Progress of glutaric aciduria type I].
    Gao JZ; Luo XP
    Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):912-4. PubMed ID: 23324148
    [No Abstract]   [Full Text] [Related]  

  • 15. Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
    Sauer SW; Opp S; Hoffmann GF; Koeller DM; Okun JG; Kölker S
    Brain; 2011 Jan; 134(Pt 1):157-70. PubMed ID: 20923787
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I.
    Herskovitz M; Goldsher D; Sela BA; Mandel H
    Neurology; 2013 Aug; 81(9):849-50. PubMed ID: 23884036
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.
    Sauer SW; Opp S; Komatsuzaki S; Blank AE; Mittelbronn M; Burgard P; Koeller DM; Okun JG; Kölker S
    Biochim Biophys Acta; 2015 May; 1852(5):768-77. PubMed ID: 25558815
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
    Gonzalez Melo M; Remacle N; Cudré-Cung HP; Roux C; Poms M; Cudalbu C; Barroso M; Gersting SW; Feichtinger RG; Mayr JA; Costanzo M; Caterino M; Ruoppolo M; Rüfenacht V; Häberle J; Braissant O; Ballhausen D
    Mol Genet Metab; 2021 Jun; 133(2):157-181. PubMed ID: 33965309
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
    Boy N; Haege G; Heringer J; Assmann B; Mühlhausen C; Ensenauer R; Maier EM; Lücke T; Hoffmann GF; Müller E; Burgard P; Kölker S
    J Inherit Metab Dis; 2013 May; 36(3):525-33. PubMed ID: 22971958
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
    Kölker S; Christensen E; Leonard JV; Greenberg CR; Burlina AB; Burlina AP; Dixon M; Duran M; Goodman SI; Koeller DM; Müller E; Naughten ER; Neumaier-Probst E; Okun JG; Kyllerman M; Surtees RA; Wilcken B; Hoffmann GF; Burgard P
    J Inherit Metab Dis; 2007 Feb; 30(1):5-22. PubMed ID: 17203377
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.