482 related articles for article (PubMed ID: 26563984)
21. 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]
22. Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.
Gan X; Guo Y; Shen J; Zhao Y; Zhang F; Yu C
Clin Lab; 2024 Feb; 70(2):. PubMed ID: 38345966
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth.
Peng C; Ren J; Li Y; Keqie Y; Zhou F; Zhang X; Zhu H; Hu T; Wang H; Chen X; Liu S
Reprod Sci; 2021 Dec; 28(12):3571-3578. PubMed ID: 34076870
[TBL] [Abstract][Full Text] [Related]
28. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Richard E; Jorge-Finnigan A; Garcia-Villoria J; Merinero B; Desviat LR; Gort L; Briones P; Leal F; Pérez-Cerdá C; Ribes A; Ugarte M; Pérez B;
Hum Mutat; 2009 Nov; 30(11):1558-66. PubMed ID: 19760748
[TBL] [Abstract][Full Text] [Related]
29. [Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases].
Liu XQ; Yan H; Qiu JX; Zhang CY; Qi JG; Zhang X; Xiao HJ; Yang YL; Chen YH; Du JB
Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct; 49(5):768-777. PubMed ID: 29045954
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.
Yu Y; Ling S; Shuai R; Qiu W; Zhang H; Liang L; Ji W; Liu Y; Gu X; Han L
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):436-443. PubMed ID: 34704411
[TBL] [Abstract][Full Text] [Related]
33. Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L; Brox-Torrecilla N; Romero I; Motilla M; Serrano-Moreno C; Miguélez M; Cuerda C
Orphanet J Rare Dis; 2024 Jan; 19(1):20. PubMed ID: 38245797
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.
Whitaker AM; Thomas NH; Krivitzky LS; Ficicioglu CH
Appl Neuropsychol Child; 2018; 7(2):143-149. PubMed ID: 28071971
[TBL] [Abstract][Full Text] [Related]
36. Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.
Liu J; Peng Y; Zhou N; Liu X; Meng Q; Xu H; Zhao S
Orphanet J Rare Dis; 2017 Mar; 12(1):58. PubMed ID: 28327205
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.
Gupta N; Endrakanti M; Bhat M; Rao N; Kaur R; Kabra M
Indian J Pediatr; 2024 Jul; 91(7):675-681. PubMed ID: 37420116
[TBL] [Abstract][Full Text] [Related]
39. A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.
Yang H; Li M; Zou L; Zou H; Zhao Y; Cui Y; Han J
Intractable Rare Dis Res; 2023 Feb; 12(1):29-34. PubMed ID: 36873673
[TBL] [Abstract][Full Text] [Related]
40. Investigation and Analysis of Blood Biochemical Indexes and Molecular Biology of Methylmalonic Acidemia.
Song D; Lv Y; Wang H; Ge J; Li T; Chen Y
Clin Lab; 2022 Mar; 68(3):. PubMed ID: 35254044
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]