BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 31137025)

  • 1. Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.
    Topaloglu R; İnözü M; Gülhan B; Gürbüz B; Talim B; Coşkun T
    Nephron; 2019; 142(3):258-263. PubMed ID: 31137025
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
    Wood WD; Elmaghrabi A; Gotway G; Wolf MTF
    Pediatr Nephrol; 2022 Jun; 37(6):1415-1418. PubMed ID: 34854955
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.
    Li QL; Song WQ; Peng XX; Liu XR; He LJ; Fu LB
    World J Pediatr; 2015 Aug; 11(3):276-80. PubMed ID: 26253414
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period.
    Kind T; Levy J; Lee M; Kaicker S; Nicholson JF; Kane SA
    J Pediatr Hematol Oncol; 2002 May; 24(4):327-9. PubMed ID: 11972107
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab.
    Barlas UK; Kıhtır HS; Goknar N; Ersoy M; Akcay N; Sevketoglu E
    Pediatr Nephrol; 2018 Jun; 33(6):1093-1096. PubMed ID: 29558000
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.
    Philipponnet C; Desenclos J; Brailova M; Aniort J; Kemeny JL; Deville C; Fremeaux-Bacchi V; Souweine B; Heng AE
    BMC Nephrol; 2020 Mar; 21(1):96. PubMed ID: 32164588
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
    Cornec-Le Gall E; Delmas Y; De Parscau L; Doucet L; Ogier H; Benoist JF; Fremeaux-Bacchi V; Le Meur Y
    Am J Kidney Dis; 2014 Jan; 63(1):119-23. PubMed ID: 24210589
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
    Sharma AP; Greenberg CR; Prasad AN; Prasad C
    Pediatr Nephrol; 2007 Dec; 22(12):2097-103. PubMed ID: 17874135
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.
    Adrovic A; Canpolat N; Caliskan S; Sever L; Kıykım E; Agbas A; Baumgartner MR
    Pediatr Int; 2016 Aug; 58(8):763-5. PubMed ID: 27324188
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
    Menni F; Testa S; Guez S; Chiarelli G; Alberti L; Esposito S
    Pediatr Nephrol; 2012 Aug; 27(8):1401-5. PubMed ID: 22447314
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].
    Chenel C; Wood C; Gourrier E; Zittoun J; Casadevall I; Ogier H
    Arch Fr Pediatr; 1993 Nov; 50(9):749-54. PubMed ID: 8060203
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
    Kalantari S; Brezzi B; Bracciamà V; Barreca A; Nozza P; Vaisitti T; Amoroso A; Deaglio S; Manganaro M; Porta F; Spada M
    Orphanet J Rare Dis; 2022 Feb; 17(1):33. PubMed ID: 35109910
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.
    Karava V; Kondou A; Dotis J; Sotiriou G; Gerou S; Michelakakis H; Vargiami E; Economou M; Zafeiriou D; Printza N
    Children (Basel); 2021 Feb; 8(2):. PubMed ID: 33562640
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
    Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.
    He R; Mo R; Shen M; Kang L; Song J; Liu Y; Chen Z; Zhang H; Yao H; Liu Y; Zhang Y; Dong H; Jin Y; Li M; Qin J; Zheng H; Chen Y; Li D; Wei H; Li X; Zhang H; Huang M; Zhang C; Jiang Y; Liang D; Tian Y; Yang Y
    Orphanet J Rare Dis; 2020 Aug; 15(1):200. PubMed ID: 32746869
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
    Collison FT; Xie YA; Gambin T; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Fishman GA; Allikmets R
    Ophthalmic Genet; 2015; 36(3):270-5. PubMed ID: 25687216
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.
    Wang C; Li D; Cai F; Zhang X; Xu X; Liu X; Zhang C; Wang D; Liu X; Lin S; Zhang Y; Shu J
    Eur J Med Genet; 2019 Oct; 62(10):103713. PubMed ID: 31279840
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
    He R; Zhang H; Kang L; Li H; Shen M; Zhang Y; Mo R; Liu Y; Song J; Chen Z; Liu Y; Jin Y; Li M; Dong H; Zheng H; Li D; Qin J; Zhang H; Huang M; Liang D; Tian Y; Yao H; Yang Y
    Neurology; 2020 Dec; 95(23):e3129-e3137. PubMed ID: 32943488
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.