157 related articles for article (PubMed ID: 38070096)
1. Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN; E HS; Yu Y; Ling SY; Liang LL; Qiu WJ; Zhang HW; Shuai RX; Wei HY; Yang CJ; Xu P; Chen XG; Zou H; Feng JZ; Niu TT; Hu HL; Zhang KC; Lu DY; Gong ZW; Zhan X; Ji WJ; Gu XF; Chen YX; Han LS
World J Pediatr; 2023 Dec; ():. PubMed ID: 38070096
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Late-onset cblC defect: clinical, biochemical and molecular analysis.
Ding S; Ling S; Liang L; Qiu W; Zhang H; Chen T; Zhan X; Xu F; Gu X; Han L
Orphanet J Rare Dis; 2023 Sep; 18(1):306. PubMed ID: 37770946
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Chen Z; Dong H; Liu Y; He R; Song J; Jin Y; Li M; Liu Y; Liu X; Yan H; Qi J; Wang F; Xiao H; Zheng H; Kang L; Li D; Zhang Y; Yang Y
Orphanet J Rare Dis; 2022 Sep; 17(1):330. PubMed ID: 36056359
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].
He R; Mo R; Zhang Y; Shen M; Kang L; Chen Z; Liu Y; Song J; Zhang H; Yao H; Liu Y; Dong H; Jin Y; Li M; Qin J; Zheng H; Chen Y; Wei H; Li D; Li X; Zheng R; Zhang H; Huang M; Zhang C; Jiang Y; Liang D; Tian Y; Yang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun; 39(6):565-570. PubMed ID: 35773756
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.
Wang C; Li D; Cai F; Zhang X; Xu X; Liu X; Zhang C; Wang D; Liu X; Lin S; Zhang Y; Shu J
Eur J Med Genet; 2019 Oct; 62(10):103713. PubMed ID: 31279840
[TBL] [Abstract][Full Text] [Related]
11. Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.
Wang SJ; Yan CZ; Wen B; Zhao YY
Neuropsychiatr Dis Treat; 2019; 15():549-555. PubMed ID: 30863077
[TBL] [Abstract][Full Text] [Related]
12. Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?
Chu X; Meng L; Zhang W; Luo J; Wang Z; Yuan Y
Front Neurol; 2020; 11():594905. PubMed ID: 33324334
[No Abstract] [Full Text] [Related]
13. 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]
14. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C; Oussalah A; Falliano S; Ferri L; Gozzini A; Gasperini S; Motta S; Rigoldi M; Parenti G; Tummolo A; Meli C; Menni F; Furlan F; Daniotti M; Malvagia S; la Marca G; Chery C; Morange PE; Tregouet D; Donati MA; Guerrini R; Guéant JL; Morrone A
Clin Epigenetics; 2021 Jul; 13(1):137. PubMed ID: 34215320
[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. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD; Morrissey MA; Kirmse BM; Salveson BR; Wasserstein MP; McGuire PJ; Sunny S; Cohen-Pfeffer JL; Yu C; Caggana M; Diaz GA
Mol Genet Metab; 2010 Feb; 99(2):116-23. PubMed ID: 19836982
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP; Anastasio N; Liu J; Coelho D; Suormala T; Stucki M; Loewy AD; Gurd S; Grundberg E; Morel CF; Watkins D; Baumgartner MR; Pastinen T; Rosenblatt DS; Fowler B
Hum Mutat; 2009 Jul; 30(7):1072-81. PubMed ID: 19370762
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Almannai M; Marom R; Divin K; Scaglia F; Sutton VR; Craigen WJ; Lee B; Burrage LC; Graham BH
Mol Genet Metab; 2017 Sep; 122(1-2):60-66. PubMed ID: 28693988
[TBL] [Abstract][Full Text] [Related]
20. Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis.
Liu YP; He RX; Chen ZH; Kang LL; Song JQ; Liu Y; Shi CY; Chen JY; Dong H; Zhang Y; Li MQ; Jin Y; Qin J; Yang YL
Front Nutr; 2023; 10():1124387. PubMed ID: 37252234
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]