BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 27132595)

  • 1. A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
    Molloy AM; Pangilinan F; Mills JL; Shane B; O'Neill MB; McGaughey DM; Velkova A; Abaan HO; Ueland PM; McNulty H; Ward M; Strain JJ; Cunningham C; Casey M; Cropp CD; Kim Y; Bailey-Wilson JE; Wilson AF; Brody LC
    Am J Hum Genet; 2016 May; 98(5):869-882. PubMed ID: 27132595
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B
    Dalmia A; Dib MJ; Maude H; Harrington DJ; Sobczyńska-Malefora A; Andrew T; Ahmadi KR
    J Nutr Biochem; 2019 Aug; 70():156-163. PubMed ID: 31203192
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
    Marti-Sanchez L; Baide-Mairena H; Marcé-Grau A; Pons R; Skouma A; López-Laso E; Sigatullina M; Rizzo C; Semeraro M; Martinelli D; Carrozzo R; Dionisi-Vici C; González-Gutiérrez-Solana L; Correa-Vela M; Ortigoza-Escobar JD; Sánchez-Montañez Á; Vazquez É; Delgado I; Aguilera-Albesa S; Yoldi ME; Ribes A; Tort F; Pollini L; Galosi S; Leuzzi V; Tolve M; Pérez-Gay L; Aldamiz-Echevarría L; Del Toro M; Arranz A; Roelens F; Urreizti R; Artuch R; Macaya A; Pérez-Dueñas B
    J Inherit Metab Dis; 2021 Mar; 44(2):401-414. PubMed ID: 32677093
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
    Demaret T; Bédard K; Soucy JF; Watkins D; Allard P; Levtova A; O'Brien A; Brunel-Guitton C; Rosenblatt DS; Mitchell GA
    Mol Genet Metab; 2024 May; 142(1):108345. PubMed ID: 38387306
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
    Zhu H; Bao X; Zhang Y
    Zhonghua Er Ke Za Zhi; 2015 Aug; 53(8):626-30. PubMed ID: 26717663
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
    Peters H; Ferdinandusse S; Ruiter JP; Wanders RJ; Boneh A; Pitt J
    Mol Genet Metab; 2015 Aug; 115(4):168-73. PubMed ID: 26163321
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Reliable and powerful laboratory markers of cobalamin deficiency in the newborn: plasma and urinary methylmalonic acid.
    Kalay Z; Islek A; Parlak M; Kirecci A; Guney O; Koklu E; Kalay S
    J Matern Fetal Neonatal Med; 2016; 29(1):60-3. PubMed ID: 25385266
    [TBL] [Abstract][Full Text] [Related]  

  • 8. HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
    Reuter MS; Sass JO; Leis T; Köhler J; Mayr JA; Feichtinger RG; Rauh M; Schanze I; Bähr L; Trollmann R; Uebe S; Ekici AB; Reis A
    Am J Med Genet A; 2014 Dec; 164A(12):3162-9. PubMed ID: 25251209
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.
    Tan H; Chen X; Lv W; Linpeng S; Liang D; Wu L
    J Hum Genet; 2018 Jul; 63(7):851-855. PubMed ID: 29703962
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
    Schottmann G; Sarpong A; Lorenz C; Weinhold N; Gill E; Teschner L; Ferdinandusse S; Wanders RJ; Prigione A; Schuelke M
    Mov Disord; 2016 Nov; 31(11):1733-1739. PubMed ID: 27400804
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cobalamin status and its biochemical markers methylmalonic acid and homocysteine in different age groups from 4 days to 19 years.
    Monsen AL; Refsum H; Markestad T; Ueland PM
    Clin Chem; 2003 Dec; 49(12):2067-75. PubMed ID: 14633879
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
    D'Gama AM; Brucker WJ; Zhang T; Gubbels CS; Ferdinandusse S; Shi J; Grant PE; VanNoy G; Genetti CA; Juusola J; Yu TW; Kritzer A; Agrawal PB
    Am J Med Genet A; 2020 Apr; 182(4):780-784. PubMed ID: 32022391
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
    Haarmann A; Mayr M; Kölker S; Baumgartner ER; Schnierda J; Hopfer H; Devuyst O; Baumgartner MR
    Mol Genet Metab; 2013 Dec; 110(4):472-6. PubMed ID: 24095221
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
    Weiss KJ; Röschinger W; Blessing H; Lotz-Havla AS; Schiergens KA; Maier EM
    Ann Nutr Metab; 2020; 76(4):268-276. PubMed ID: 32683363
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
    Stiles AR; Ferdinandusse S; Besse A; Appadurai V; Leydiker KB; Cambray-Forker EJ; Bonnen PE; Abdenur JE
    Mol Genet Metab; 2015 Aug; 115(4):161-7. PubMed ID: 26026795
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia.
    Xu Y; Zhang J; Yu K; Feng F; Sun X; Li C; Li H; Cui L
    Eur J Paediatr Neurol; 2019 Sep; 23(5):755-759. PubMed ID: 31679561
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
    Chen M; Zhuang J; Yang J; Wang D; Yang Q
    Medicine (Baltimore); 2017 Oct; 96(43):e8284. PubMed ID: 29068997
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Population Reference Values for Serum Methylmalonic Acid Concentrations and Its Relationship with Age, Sex, Race-Ethnicity, Supplement Use, Kidney Function and Serum Vitamin B12 in the Post-Folic Acid Fortification Period.
    Ganji V; Kafai MR
    Nutrients; 2018 Jan; 10(1):. PubMed ID: 29329201
    [TBL] [Abstract][Full Text] [Related]  

  • 19. South Asian Ethnicity Is Related to the Highest Risk of Vitamin B12 Deficiency in Pregnant Canadian Women.
    Jeruszka-Bielak M; Isman C; Schroder TH; Li W; Green TJ; Lamers Y
    Nutrients; 2017 Mar; 9(4):. PubMed ID: 28333089
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Studies on methylmalonic acid in humans. II. Relationship between concentrations in serum and urinary excretion, and the correlation between serum cobalamin and accumulation of methylmalonic acid.
    Rasmussen K; Moelby L; Jensen MK
    Clin Chem; 1989 Dec; 35(12):2277-80. PubMed ID: 2591043
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.