BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 38387306)

  • 21. Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
    Bartholomew DW; Batshaw ML; Allen RH; Roe CR; Rosenblatt D; Valle DL; Francomano CA
    J Pediatr; 1988 Jan; 112(1):32-9. PubMed ID: 3257264
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. [Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria].
    Yu YF; Li F; Ma HW
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Aug; 17(8):769-74. PubMed ID: 26287336
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
    Kılıç M; Özgül RK; Dursun A; Tokatlı A; Kalkanoğlu-Sivri HS; Anlar B; Fowler B; Coşkun T
    Turk J Pediatr; 2013; 55(6):633-6. PubMed ID: 24577983
    [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. Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
    Brooks BP; Thompson AH; Sloan JL; Manoli I; Carrillo-Carrasco N; Zein WM; Venditti CP
    Ophthalmology; 2016 Mar; 123(3):571-82. PubMed ID: 26825575
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
    Zong Y; Liu N; Zhao Z; Kong X
    BMC Med Genet; 2015 Jul; 16():48. PubMed ID: 26149271
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
    Thauvin-Robinet C; Roze E; Couvreur G; Horellou MH; Sedel F; Grabli D; Bruneteau G; Tonneti C; Masurel-Paulet A; Perennou D; Moreau T; Giroud M; de Baulny HO; Giraudier S; Faivre L
    J Neurol Neurosurg Psychiatry; 2008 Jun; 79(6):725-8. PubMed ID: 18245139
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
    Sloan JL; Achilly NP; Arnold ML; Catlett JL; Blake T; Bishop K; Jones M; Harper U; English MA; Anderson S; Trivedi NS; Elkahloun A; Hoffmann V; Brooks BP; Sood R; Venditti CP
    Hum Mol Genet; 2020 Aug; 29(13):2109-2123. PubMed ID: 32186706
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
    Paz D; Pinales BE; Castellanos BS; Perez I; Gil CB; Madrigal LJ; Reyes-Nava NG; Castro VL; Sloan JL; Quintana AM
    Differentiation; 2023; 131():74-81. PubMed ID: 37167860
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.
    Passantino R; Mangione MR; Ortore MG; Costa MA; Provenzano A; Amenitsch H; Sabbatella R; Alfano C; Martorana V; Vilasi S
    Biochim Biophys Acta Proteins Proteom; 2022 Jun; 1870(6):140793. PubMed ID: 35618206
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
    Lerner-Ellis JP; Anastasio N; Liu J; Coelho D; Suormala T; Stucki M; Loewy AD; Gurd S; Grundberg E; Morel CF; Watkins D; Baumgartner MR; Pastinen T; Rosenblatt DS; Fowler B
    Hum Mutat; 2009 Jul; 30(7):1072-81. PubMed ID: 19370762
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
    Chen T; Liang L; Zhang H; Ye J; Qiu W; Xiao B; Zhu H; Wang L; Xu F; Gong Z; Gu X; Han L
    Orphanet J Rare Dis; 2021 Mar; 16(1):125. PubMed ID: 33691766
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases].
    Liu XQ; Yan H; Qiu JX; Zhang CY; Qi JG; Zhang X; Xiao HJ; Yang YL; Chen YH; Du JB
    Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct; 49(5):768-777. PubMed ID: 29045954
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Hydroxocobalamin dose escalation improves metabolic control in cblC.
    Carrillo-Carrasco N; Sloan J; Valle D; Hamosh A; Venditti CP
    J Inherit Metab Dis; 2009 Dec; 32(6):728-731. PubMed ID: 19821145
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.