187 related articles for article (PubMed ID: 35105663)
1. Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
Nguyen MG; Tronick L; Modirian F; Mardach R; Besterman AD
Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35105663
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
Ku CA; Ng JK; Karr DJ; Reznick L; Harding CO; Weleber RG; Pennesi ME
Ophthalmic Genet; 2016 Dec; 37(4):404-414. PubMed ID: 26979128
[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. Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review.
Cui J; Wang Y; Zhang H; Cui X; Wang L; Zheng H
Medicine (Baltimore); 2019 Sep; 98(39):e17334. PubMed ID: 31574870
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.
Hannibal L; DiBello PM; Yu M; Miller A; Wang S; Willard B; Rosenblatt DS; Jacobsen DW
Mol Genet Metab; 2011 Jul; 103(3):226-39. PubMed ID: 21497120
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Weisfeld-Adams JD; Bender HA; Miley-Åkerstedt A; Frempong T; Schrager NL; Patel K; Naidich TP; Stein V; Spat J; Towns S; Wasserstein MP; Peter I; Frank Y; Diaz GA
Mol Genet Metab; 2013 Nov; 110(3):241-7. PubMed ID: 23954310
[TBL] [Abstract][Full Text] [Related]
13. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Carrillo-Carrasco N; Venditti CP
J Inherit Metab Dis; 2012 Jan; 35(1):103-14. PubMed ID: 21748408
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. Inborn errors of cobalamin absorption and metabolism.
Watkins D; Rosenblatt DS
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):33-44. PubMed ID: 21312325
[TBL] [Abstract][Full Text] [Related]
19. Glutathione metabolism in cobalamin deficiency type C (cblC).
Pastore A; Martinelli D; Piemonte F; Tozzi G; Boenzi S; Di Giovamberardino G; Petrillo S; Bertini E; Dionisi-Vici C
J Inherit Metab Dis; 2014 Jan; 37(1):125-9. PubMed ID: 23568438
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
