491 related articles for article (PubMed ID: 17768669)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD; Morrissey MA; Kirmse BM; Salveson BR; Wasserstein MP; McGuire PJ; Sunny S; Cohen-Pfeffer JL; Yu C; Caggana M; Diaz GA
Mol Genet Metab; 2010 Feb; 99(2):116-23. PubMed ID: 19836982
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Treatment of cobalamin C (cblC) deficiency during pregnancy.
Brunel-Guitton C; Costa T; Mitchell GA; Lambert M
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S409-12. PubMed ID: 20830523
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Tsai AC; Morel CF; Scharer G; Yang M; Lerner-Ellis JP; Rosenblatt DS; Thomas JA
Am J Med Genet A; 2007 Oct; 143A(20):2430-4. PubMed ID: 17853453
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Gerth C; Morel CF; Feigenbaum A; Levin AV
J AAPOS; 2008 Dec; 12(6):591-6. PubMed ID: 18848477
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]