BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

442 related articles for article (PubMed ID: 21431622)

  • 1. 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]  

  • 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. 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]  

  • 4. Glutaric aciduria type 1--importance of early diagnosis and treatment.
    Afroze B; Yunus ZM
    J Pak Med Assoc; 2014 May; 64(5):593-5. PubMed ID: 25272554
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
    Tsai FC; Lee HJ; Wang AG; Hsieh SC; Lu YH; Lee MC; Pai JS; Chu TH; Yang CF; Hsu TR; Lai CJ; Tsai MT; Ho PH; Lin MC; Cheng LY; Chuang YC; Niu DM
    J Chin Med Assoc; 2017 Apr; 80(4):253-261. PubMed ID: 28302372
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
    Popek M; Walter M; Fernando M; Lindner M; Schwab KO; Sass JO
    Clin Chim Acta; 2010 Dec; 411(23-24):2087-91. PubMed ID: 20836999
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
    Viau K; Ernst SL; Vanzo RJ; Botto LD; Pasquali M; Longo N
    Mol Genet Metab; 2012 Aug; 106(4):430-8. PubMed ID: 22728054
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. [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]  

  • 14. 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]  

  • 15. Organic acidurias in adults: late complications and management.
    Tuncel AT; Boy N; Morath MA; Hörster F; Mütze U; Kölker S
    J Inherit Metab Dis; 2018 Sep; 41(5):765-776. PubMed ID: 29335813
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neonatal screening for glutaric aciduria type I: strategies to proceed.
    Lindner M; Ho S; Fang-Hoffmann J; Hoffmann GF; Kölker S
    J Inherit Metab Dis; 2006; 29(2-3):378-82. PubMed ID: 16763905
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
    Harting I; Neumaier-Probst E; Seitz A; Maier EM; Assmann B; Baric I; Troncoso M; Mühlhausen C; Zschocke J; Boy NP; Hoffmann GF; Garbade SF; Kölker S
    Brain; 2009 Jul; 132(Pt 7):1764-82. PubMed ID: 19433437
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
    Matsumoto M; Awano H; Bo R; Nagai M; Tomioka K; Nishiyama M; Ninchouji T; Nagase H; Yagi M; Morioka I; Hasegawa Y; Takeshima Y; Iijima K
    Pediatr Int; 2018 Jan; 60(1):67-69. PubMed ID: 29059480
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.