148 related articles for article (PubMed ID: 31352748)
1. [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]
2. [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]
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. [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]
5. 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]
6. [Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia].
Ma X; Chen ZH; Zhang HT; He RX; Wang Q; Ding Y; Song JQ; Jin Y; Li MQ; Dong H; Zhang Y; Lu M; Lu XP; Cao HQ; Wang YQ; Chen YX; Zheng H; Yang YL
Zhonghua Er Ke Za Zhi; 2024 Jun; 62(6):520-525. PubMed ID: 38763872
[No Abstract] [Full Text] [Related]
7. 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]
8. [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]
9. 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]
10. Lung involvement in children with lysinuric protein intolerance.
Valimahamed-Mitha S; Berteloot L; Ducoin H; Ottolenghi C; de Lonlay P; de Blic J
J Inherit Metab Dis; 2015 Mar; 38(2):257-63. PubMed ID: 25335805
[TBL] [Abstract][Full Text] [Related]
11. [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]
12. [Clinical analysis of two cases with diffuse pulmonary lymphatic disease].
Liu JR; Shen WB; Wen Z; An R; Zhou CJ; Zhao SY
Zhonghua Er Ke Za Zhi; 2016 May; 54(5):360-4. PubMed ID: 27143078
[TBL] [Abstract][Full Text] [Related]
13. Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M; Scholl-Bürgi S; Hadaya K; Kern I; Beer R; Seppi K; Fowler B; Baumgartner MR; Karall D
Orphanet J Rare Dis; 2014 Nov; 9():161. PubMed ID: 25398587
[TBL] [Abstract][Full Text] [Related]
14. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Huang Z; Han LS; Ye J; Qiu WJ; Zhang HW; Gao XL; Wang Y; Ji WJ; Li XY; Gu XF
Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Wang F; Han LS; Hu YH; Yang YL; Ye J; Qiu WJ; Zhang YF; Gao XL; Wang Y; Gu XF
Zhonghua Er Ke Za Zhi; 2009 Mar; 47(3):189-93. PubMed ID: 19573432
[TBL] [Abstract][Full Text] [Related]
17. [Clinical, radiologic, pathological features and diagnosis of 14 cases with interstitial lung disease in children].
Pediatric Diffuse Parenchymal Lung Disease/Pediatric Interstitial Lung Disease Cooperative Group, The Subspecialty Group of Respiratory Diseases, The Society of Pediatrics, Chinese Medical Association
Zhonghua Er Ke Za Zhi; 2011 Feb; 49(2):92-7. PubMed ID: 21426684
[TBL] [Abstract][Full Text] [Related]
18. [Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC].
Liu YP; Yang YL
Zhonghua Er Ke Za Zhi; 2013 Apr; 51(4):313-6. PubMed ID: 23927810
[No Abstract] [Full Text] [Related]
19. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Yu HC; Sloan JL; Scharer G; Brebner A; Quintana AM; Achilly NP; Manoli I; Coughlin CR; Geiger EA; Schneck U; Watkins D; Suormala T; Van Hove JL; Fowler B; Baumgartner MR; Rosenblatt DS; Venditti CP; Shaikh TH
Am J Hum Genet; 2013 Sep; 93(3):506-14. PubMed ID: 24011988
[TBL] [Abstract][Full Text] [Related]
20. [Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].
Cui D; Chen SL; Wen PQ; Hu YH; Chen XW; Shen D; Yuan Q; Song P; Liao JX; Li CR
Zhonghua Er Ke Za Zhi; 2010 Jun; 48(6):469-72. PubMed ID: 21055272
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]