BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 23104440)

  • 21. Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
    Couce ML; López-Suárez O; Bóveda MD; Castiñeiras DE; Cocho JA; García-Villoria J; Castro-Gago M; Fraga JM; Ribes A
    Eur J Paediatr Neurol; 2013 Jul; 17(4):383-9. PubMed ID: 23395213
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns.
    Sabi EM; AlMogren M; Sebaa R; Sumaily KM; AlMalki R; Mujamammi AH; Abdel Rahman AM
    Clin Chim Acta; 2024 Apr; 557():117861. PubMed ID: 38490341
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.
    Nunes J; Loureiro S; Carvalho S; Pais RP; Alfaiate C; Faria A; Garcia P; Diogo L
    Neuroradiol J; 2013 Apr; 26(2):155-61. PubMed ID: 23859237
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.
    Lin Y; Zhu X; Zhang C; Yin X; Miao H; Hu Z; Yang J; Wu B; Huang X
    Clin Chim Acta; 2022 May; 530():113-118. PubMed ID: 35367405
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.
    Yang L; Yin H; Yang R; Huang X
    Med Sci Monit; 2011 Jul; 17(7):PH55-9. PubMed ID: 21709643
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
    Wang Q; Ding Y; Liu Y; Li X; Wu T; Song J; Wang Y; Yang Y
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):415-9. PubMed ID: 25190159
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.
    Biasucci G; Morelli N; Natacci F; Mastrangelo M
    Ital J Pediatr; 2018 Jan; 44(1):8. PubMed ID: 29335023
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.
    Höliner I; Simma B; Reiter A; Sass JO; Zschocke J; Huemer M
    Klin Padiatr; 2010; 222(1):35-7. PubMed ID: 20084589
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. MRS features during encephalopathic crisis period in 11 years old case with GA-1.
    Kurtcan S; Aksu B; Alkan A; Guler S; Iscan A
    Brain Dev; 2015 May; 37(5):546-51. PubMed ID: 25277297
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Metabolic Serendipities of Expanded Newborn Screening.
    Yahyaoui R; Blasco-Alonso J; Gonzalo-Marín M; Benito C; Serrano-Nieto J; González-Gallego I; Ruiz-Sala P; Pérez B; González-Lamuño D
    Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32872442
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. [Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)].
    Lawrenz-Wolf B; Herberg KP; Hoffmann GF; Hunneman DH; Lehnert W; Hanefeld F
    Klin Padiatr; 1993; 205(1):23-9. PubMed ID: 8445849
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Reversible brain atrophy in glutaric aciduria type 1.
    Numata-Uematsu Y; Sakamoto O; Kakisaka Y; Okubo Y; Oikawa Y; Arai-Ichinoi N; Kure S; Uematsu M
    Brain Dev; 2017 Jun; 39(6):532-535. PubMed ID: 28143689
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.
    Bross P; Frederiksen JB; Bie AS; Hansen J; Palmfeldt J; Nielsen MN; Duno M; Lund AM; Christensen E
    J Inherit Metab Dis; 2012 Sep; 35(5):787-96. PubMed ID: 22231382
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
    Pokora P; Jezela-Stanek A; Różdżyńska-Świątkowska A; Jurkiewicz E; Bogdańska A; Szymańska E; Rokicki D; Ciara E; Rydzanicz M; Stawiński P; Płoski R; Tylki-Szymańska A
    Metab Brain Dis; 2019 Apr; 34(2):641-649. PubMed ID: 30570710
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.