205 related articles for article (PubMed ID: 20219402)
1. 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]
2. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Froese DS; Zhang J; Healy S; Gravel RA
Mol Genet Metab; 2009 Dec; 98(4):338-43. PubMed ID: 19700356
[TBL] [Abstract][Full Text] [Related]
3. Intracellular processing of vitamin B
Hannibal L; Jacobsen DW
Vitam Horm; 2022; 119():275-298. PubMed ID: 35337623
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
Wang J; Li E; Wang L; Wang Z; Yang S; Zhou Q; Chen Q
Int J Clin Exp Pathol; 2015; 8(8):9337-41. PubMed ID: 26464686
[TBL] [Abstract][Full Text] [Related]
7. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF; Lerner-Ellis JP; Rosenblatt DS
Mol Genet Metab; 2006 Aug; 88(4):315-21. PubMed ID: 16714133
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Liu Y; Wang Q; Li X; Ding Y; Song J; Yang Y
Brain Dev; 2015 Mar; 37(3):286-91. PubMed ID: 24974159
[TBL] [Abstract][Full Text] [Related]
12. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Wang F; Han L; Yang Y; Gu X; Ye J; Qiu W; Zhang H; Zhang Y; Gao X; Wang Y
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S435-42. PubMed ID: 20924684
[TBL] [Abstract][Full Text] [Related]
13. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Nogueira C; Aiello C; Cerone R; Martins E; Caruso U; Moroni I; Rizzo C; Diogo L; Leão E; Kok F; Deodato F; Schiaffino MC; Boenzi S; Danhaive O; Barbot C; Sequeira S; Locatelli M; Santorelli FM; Uziel G; Vilarinho L; Dionisi-Vici C
Mol Genet Metab; 2008 Apr; 93(4):475-80. PubMed ID: 18164228
[TBL] [Abstract][Full Text] [Related]
14. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Heil SG; Hogeveen M; Kluijtmans LA; van Dijken PJ; van de Berg GB; Blom HJ; Morava E
J Inherit Metab Dis; 2007 Oct; 30(5):811. PubMed ID: 17768669
[TBL] [Abstract][Full Text] [Related]
15. Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
Gündüz M; Ekici F; Özaydın E; Ceylaner S; Perez B
Eur J Pediatr; 2014 Dec; 173(12):1707-10. PubMed ID: 24853097
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Scalais E; Geron C; Pierron C; Cardillo S; Schlesser V; Mataigne F; Borde P; Regal L
Mol Genet Metab; 2023 Nov; 140(3):107681. PubMed ID: 37604084
[TBL] [Abstract][Full Text] [Related]
19. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP; Tirone JC; Pawelek PD; Doré C; Atkinson JL; Watkins D; Morel CF; Fujiwara TM; Moras E; Hosack AR; Dunbar GV; Antonicka H; Forgetta V; Dobson CM; Leclerc D; Gravel RA; Shoubridge EA; Coulton JW; Lepage P; Rommens JM; Morgan K; Rosenblatt DS
Nat Genet; 2006 Jan; 38(1):93-100. PubMed ID: 16311595
[TBL] [Abstract][Full Text] [Related]
20. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C; Oussalah A; Falliano S; Ferri L; Gozzini A; Gasperini S; Motta S; Rigoldi M; Parenti G; Tummolo A; Meli C; Menni F; Furlan F; Daniotti M; Malvagia S; la Marca G; Chery C; Morange PE; Tregouet D; Donati MA; Guerrini R; Guéant JL; Morrone A
Clin Epigenetics; 2021 Jul; 13(1):137. PubMed ID: 34215320
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
