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]