197 related articles for article (PubMed ID: 18245139)
1. 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]
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. 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]
4. [A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)].
Yamamoto M; Yasui K; Watanabe Y; Kowa H; Yamaguchi S; Nakashima K
Rinsho Shinkeigaku; 2015; 55(1):23-8. PubMed ID: 25672861
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M; Scholl-Bürgi S; Hadaya K; Kern I; Beer R; Seppi K; Fowler B; Baumgartner MR; Karall D
Orphanet J Rare Dis; 2014 Nov; 9():161. PubMed ID: 25398587
[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. 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]
11. Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S; Brezzi B; Bracciamà V; Barreca A; Nozza P; Vaisitti T; Amoroso A; Deaglio S; Manganaro M; Porta F; Spada M
Orphanet J Rare Dis; 2022 Feb; 17(1):33. PubMed ID: 35109910
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Huang Z; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Ji WJ; Li XY; Gu XF
Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.
Wang SJ; Yan CZ; Liu YM; Zhao YY
Metab Brain Dis; 2018 Jun; 33(3):829-835. PubMed ID: 29374341
[TBL] [Abstract][Full Text] [Related]
19. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
Roze E; Gervais D; Demeret S; Ogier de Baulny H; Zittoun J; Benoist JF; Said G; Pierrot-Deseilligny C; Bolgert F
Arch Neurol; 2003 Oct; 60(10):1457-62. PubMed ID: 14568819
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
