BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 23104440)

  • 1. Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
    Lee CS; Chien YH; Peng SF; Cheng PW; Chang LM; Huang AC; Hwu WL; Lee NC
    Metab Brain Dis; 2013 Mar; 28(1):61-7. PubMed ID: 23104440
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
    Shaik M; T P KV; Kamate M; A B V
    Indian J Pediatr; 2019 Nov; 86(11):995-1001. PubMed ID: 31302874
    [TBL] [Abstract][Full Text] [Related]  

  • 6. False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.
    Hennermann JB; Roloff S; Gellermann J; Grüters A; Klein J
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S355-9. PubMed ID: 20033292
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.
    Elola Pastor AI; Prieto García B; Díaz Martín JJ
    An Pediatr (Engl Ed); 2024 May; 100(5):318-324. PubMed ID: 38714461
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. [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]  

  • 13. 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]  

  • 14. (1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.
    Harting I; Boy N; Heringer J; Seitz A; Bendszus M; Pouwels PJ; Kölker S
    J Inherit Metab Dis; 2015 Sep; 38(5):829-38. PubMed ID: 25860816
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.
    Kim HS; Yu HJ; Lee J; Park HD; Kim JH; Shin HJ; Jin DK; Lee M
    Ann Clin Lab Sci; 2014; 44(2):213-6. PubMed ID: 24795062
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
    Pfeil J; Listl S; Hoffmann GF; Kölker S; Lindner M; Burgard P
    Orphanet J Rare Dis; 2013 Oct; 8():167. PubMed ID: 24135440
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
    Lin Y; Wang W; Lin C; Zheng Z; Fu Q; Peng W; Chen D
    Orphanet J Rare Dis; 2021 Aug; 16(1):339. PubMed ID: 34344405
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Early detection of glutaric aciduria type I by newborn screening in Taiwan.
    Hsieh CT; Hwu WL; Huang YT; Huang AC; Wang SF; Hu MH; Chien YH
    J Formos Med Assoc; 2008 Feb; 107(2):139-44. PubMed ID: 18285246
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.