157 related articles for article (PubMed ID: 38070096)
21. 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]
22. [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]
23. Prominent renal complications associated with
Liu X; Xiao H; Yao Y; Wang S; Zhang H; Zhong X; Yang Y; Ding J; Wang F
Front Pediatr; 2022; 10():1057594. PubMed ID: 36704130
[TBL] [Abstract][Full Text] [Related]
24. Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report.
Sun M; Dai Y
Front Neurol; 2023; 14():1308289. PubMed ID: 38148982
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.
Ling S; Wu S; Shuai R; Yu Y; Qiu W; Wei H; Yang C; Xu P; Zou H; Feng J; Niu T; Hu H; Zhang H; Liang L; Lu D; Gong Z; Zhan X; Ji W; Gu X; Han L
Front Genet; 2022; 13():805599. PubMed ID: 35242167
[No Abstract] [Full Text] [Related]
28. 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]
29. 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]
30. Outcomes of patients with cobalamin C deficiency: A single center experience.
Bourque DK; Mellin-Sanchez LE; Bullivant G; Cruz V; Feigenbaum A; Hewson S; Raiman J; Schulze A; Siriwardena K; Mercimek-Andrews S
JIMD Rep; 2021 Jan; 57(1):102-114. PubMed ID: 33473346
[TBL] [Abstract][Full Text] [Related]
31. Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager.
Cheng S; Chen W; Zhao M; Xing X; Zhao L; Ren B; Li N
Front Genet; 2022; 13():1012558. PubMed ID: 36338977
[No Abstract] [Full Text] [Related]
32. Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Y; Zhou Y; Yuan J; Ni J; Qian M; Cui L; Peng B
J Neurol; 2019 Oct; 266(10):2434-2439. PubMed ID: 31203424
[TBL] [Abstract][Full Text] [Related]
33. Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report.
Hao Q; Jiang B; Zhao Y; Hu Z
BMC Nephrol; 2024 Jan; 25(1):13. PubMed ID: 38178022
[TBL] [Abstract][Full Text] [Related]
34. Multiple sclerosis and intracellular cobalamin defect (
Pollini L; Tolve M; Nardecchia F; Galosi S; Carducci C; di Carlo E; Carducci C; Leuzzi V
Mol Genet Metab Rep; 2020 Mar; 22():100560. PubMed ID: 32099815
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.
Wang X; Yang Y; Li X; Li C; Wang C
Orphanet J Rare Dis; 2019 May; 14(1):109. PubMed ID: 31092259
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. 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]
39. Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient.
Chen Q; Tang J; Zhang H; Qin L
Front Neurol; 2023; 14():1255128. PubMed ID: 37808496
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]