904 related articles for article (PubMed ID: 29045954)
1. [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]
2. [Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation].
Tang XL; Yang HM; Liu H; Xu H; Zhou CJ; Li HM; Zhao SY; Liu JR
Zhonghua Er Ke Za Zhi; 2019 Aug; 57(8):620-624. PubMed ID: 31352748
[No Abstract] [Full Text] [Related]
3. [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]
4. 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]
5. 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]
6. 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]
7. Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report.
Wen LY; Guo YK; Shi XQ
BMC Pediatr; 2020 May; 20(1):243. PubMed ID: 32443968
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. [Risk factors for death and the clinical features of different subtypes of patients with pulmonary arterial hypertension related to congenital heart disease].
Xu ZY; Li QQ; Zhang C; Zhang HS; Gu H
Zhonghua Xin Xue Guan Bing Za Zhi; 2020 Apr; 48(4):315-322. PubMed ID: 32370483
[No Abstract] [Full Text] [Related]
13. [Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia].
Zhang Y; Song JQ; Liu P; Yan R; Dong JH; Yang YL; Wang LF; Jiang YW; Zhang YH; Qin J; Wu XR
Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):513-7. PubMed ID: 17953808
[TBL] [Abstract][Full Text] [Related]
14. [Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia].
Qi YH; Qi JG; Liu YP; Yan H; Liu XQ; Zhang X; Xiao HJ; Yang YL; DU JB
Zhongguo Dang Dai Er Ke Za Zhi; 2015 Sep; 17(9):965-70. PubMed ID: 26412180
[TBL] [Abstract][Full Text] [Related]
15. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology.
Montani D; Achouh L; Dorfmüller P; Le Pavec J; Sztrymf B; Tchérakian C; Rabiller A; Haque R; Sitbon O; Jaïs X; Dartevelle P; Maître S; Capron F; Musset D; Simonneau G; Humbert M
Medicine (Baltimore); 2008 Jul; 87(4):220-233. PubMed ID: 18626305
[TBL] [Abstract][Full Text] [Related]
16. [Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature].
Xie N; Chen DH; Lin YN; Wu SZ; Gu YY; Zeng QS; Zhai YY; Yang LY; Xu JX
Zhonghua Er Ke Za Zhi; 2016 Oct; 54(10):761-766. PubMed ID: 27784479
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. [Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China].
Liu Y; Liu YP; Zhang Y; Song JQ; Zheng H; Dong H; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Li DX; Jin Y; Li MQ; Wang ZX; Yuan Y; Li HX; Qin J; Yang YL
Zhonghua Er Ke Za Zhi; 2018 Jun; 56(6):414-420. PubMed ID: 29886603
[No Abstract] [Full Text] [Related]
19. [Renal impairment in patients with methylmalonic aciduria: a review of five cases].
Li JG; Huang JP; Xiao HJ; Yang YL; Yang JY
Zhonghua Er Ke Za Zhi; 2005 Nov; 43(11):810-3. PubMed ID: 16316525
[TBL] [Abstract][Full Text] [Related]
20. Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report.
Liao HY; Shi XQ; Li YF
World J Clin Cases; 2020 Mar; 8(6):1137-1141. PubMed ID: 32258084
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]