138 related articles for article (PubMed ID: 37604084)
21. 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]
22. 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]
23. 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]
24. Inherited defects of cobalamin metabolism.
Watkins D; Rosenblatt DS
Vitam Horm; 2022; 119():355-376. PubMed ID: 35337626
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
Enns GM; Barkovich AJ; Rosenblatt DS; Fredrick DR; Weisiger K; Ohnstad C; Packman S
J Inherit Metab Dis; 1999 Jun; 22(5):599-607. PubMed ID: 10399092
[TBL] [Abstract][Full Text] [Related]
28. High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
Higashimoto T; Kim AY; Ogawa JT; Sloan JL; Almuqbil MA; Carlson JM; Manoli I; Venditti CP; Gunay-Aygun M; Wang T
JIMD Rep; 2020 Jan; 51(1):17-24. PubMed ID: 32071835
[TBL] [Abstract][Full Text] [Related]
29. Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Kiessling E; Nötzli S; Todorova V; Forny M; Baumgartner MR; Samardzija M; Krijt J; Kožich V; Grimm C; Froese DS
Biochim Biophys Acta Mol Basis Dis; 2021 Oct; 1867(10):166201. PubMed ID: 34147638
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. The human B
Mascarenhas R; Li Z; Gherasim C; Ruetz M; Banerjee R
J Biol Chem; 2020 Jul; 295(28):9630-9640. PubMed ID: 32457044
[TBL] [Abstract][Full Text] [Related]
32. Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
Haarmann A; Mayr M; Kölker S; Baumgartner ER; Schnierda J; Hopfer H; Devuyst O; Baumgartner MR
Mol Genet Metab; 2013 Dec; 110(4):472-6. PubMed ID: 24095221
[TBL] [Abstract][Full Text] [Related]
33. The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Gherasim C; Hannibal L; Rajagopalan D; Jacobsen DW; Banerjee R
Biochimie; 2013 May; 95(5):1023-32. PubMed ID: 23415655
[TBL] [Abstract][Full Text] [Related]
34. Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.
Dionisi-Vici C; Martinelli D; Ceravolo F; Boenzi S; Pastore A
Mol Genet Metab; 2013 Aug; 109(4):329-30. PubMed ID: 23764205
[No Abstract] [Full Text] [Related]
35. Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Bacci GM; Donati MA; Pasquini E; Munier F; Cavicchi C; Morrone A; Sodi A; Murro V; Garcia Segarra N; Defilippi C; Bussolin L; Caputo R
Acta Ophthalmol; 2017 Dec; 95(8):e776-e782. PubMed ID: 28481040
[TBL] [Abstract][Full Text] [Related]
36. Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Han B; Cao Z; Tian L; Zou H; Yang L; Zhu W; Liu Y
Brain Dev; 2016 May; 38(5):491-7. PubMed ID: 26563984
[TBL] [Abstract][Full Text] [Related]
37. Redox-Linked Coordination Chemistry Directs Vitamin B
Banerjee R; Gouda H; Pillay S
Acc Chem Res; 2021 Apr; 54(8):2003-2013. PubMed ID: 33797888
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. [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]
40. Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
He R; Zhang H; Kang L; Li H; Shen M; Zhang Y; Mo R; Liu Y; Song J; Chen Z; Liu Y; Jin Y; Li M; Dong H; Zheng H; Li D; Qin J; Zhang H; Huang M; Liang D; Tian Y; Yao H; Yang Y
Neurology; 2020 Dec; 95(23):e3129-e3137. PubMed ID: 32943488
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
