BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

382 related articles for article (PubMed ID: 19199254)

  • 21. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
    Cavicchi C; Donati MA; Funghini S; la Marca G; Malvagia S; Ciani F; Poggi GM; Pasquini E; Zammarchi E; Morrone A
    Clin Genet; 2006 Jan; 69(1):72-6. PubMed ID: 16451139
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Gene discovery in methylmalonic aciduria and homocystinuria.
    Thiele J; Van Raamsdonk JM
    Clin Genet; 2006 May; 69(5):402-3. PubMed ID: 16650077
    [No Abstract]   [Full Text] [Related]  

  • 23. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia].
    Wang F; Han L; Ye J; Qiu W; Zhang Y; Gao X; Wang Y; Yang Y; Gu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):485-9. PubMed ID: 19806564
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
    Frattini D; Fusco C; Ucchino V; Tavazzi B; Della Giustina E
    Pediatr Neurol; 2010 Aug; 43(2):135-8. PubMed ID: 20610126
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].
    Cui D; Chen SL; Wen PQ; Hu YH; Chen XW; Shen D; Yuan Q; Song P; Liao JX; Li CR
    Zhonghua Er Ke Za Zhi; 2010 Jun; 48(6):469-72. PubMed ID: 21055272
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
    Froese DS; Healy S; McDonald M; Kochan G; Oppermann U; Niesen FH; Gravel RA
    Mol Genet Metab; 2010 May; 100(1):29-36. PubMed ID: 20219402
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.
    Wang X; Sun W; Yang Y; Jia J; Li C
    J Neurol Sci; 2012 Jul; 318(1-2):155-9. PubMed ID: 22560872
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
    Alfares A; Nunez LD; Al-Thihli K; Mitchell J; Melançon S; Anastasio N; Ha KC; Majewski J; Rosenblatt DS; Braverman N
    J Med Genet; 2011 Sep; 48(9):602-5. PubMed ID: 21785126
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report.
    Zhou L; Yang Q
    Neurocase; 2022 Aug; 28(4):388-392. PubMed ID: 36219783
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
    Chang JT; Chen YY; Liu TT; Liu MY; Chiu PC
    Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
    Xu XC; Zhou RF; Wu JS; Fang Y; Wang XF; Zhai ZM; Wang HL
    Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):137-9. PubMed ID: 15946523
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
    Carrillo-Carrasco N; Chandler RJ; Venditti CP
    J Inherit Metab Dis; 2012 Jan; 35(1):91-102. PubMed ID: 21748409
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.
    Gizicki R; Robert MC; Gómez-López L; Orquin J; Decarie JC; Mitchell GA; Roy MS; Ospina LH
    Ophthalmology; 2014 Jan; 121(1):381-386. PubMed ID: 24126030
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency].
    Zheng WD; Liu YH; Liu HF; Chen ZH; Wang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):515-8. PubMed ID: 17029198
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.
    Kaur R; Attri SV; Saini AG; Sankhyan N
    Amino Acids; 2021 Feb; 53(2):253-264. PubMed ID: 33515116
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
    Deme JC; Miousse IR; Plesa M; Kim JC; Hancock MA; Mah W; Rosenblatt DS; Coulton JW
    Mol Genet Metab; 2012 Nov; 107(3):352-62. PubMed ID: 22832074
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
    Weisfeld-Adams JD; Bender HA; Miley-Åkerstedt A; Frempong T; Schrager NL; Patel K; Naidich TP; Stein V; Spat J; Towns S; Wasserstein MP; Peter I; Frank Y; Diaz GA
    Mol Genet Metab; 2013 Nov; 110(3):241-7. PubMed ID: 23954310
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H; Bakker HD; Abeling NG; Poll-The BT; Kleijer WJ; Rosenblatt DS; Waterham HR; Wanders RJ; Duran M
    Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 20.