CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient

被引:5
|
作者
Kwok, Jeffrey Sung-Shing [1 ]
Fung, Simon Loi-Mo [1 ]
Lui, Grace Chung-Yan [2 ]
Law, Eric Lap-Kay [1 ]
Chan, Michael Ho-Ming [1 ]
Leung, Chi-Bon [2 ]
Tang, Nelson Leung-Sang [1 ]
机构
[1] Chinese Univ Hong Kong, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China
[2] Prince Wales Hosp, Dept Med & Therapeut, Hong Kong, Hong Kong, Peoples R China
关键词
BETA-SYNTHASE DEFICIENCY;
D O I
10.1097/PAT.0b013e3283419dbb
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:81 / 83
页数:3
相关论文
共 50 条
  • [31] Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient
    Kluijtmans, LAJ
    Boers, GHJ
    Stevens, EMB
    Renier, WO
    Kraus, JP
    Trijbels, FJM
    vandenHeuvel, LPWJ
    Blom, HJ
    JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (02): : 285 - 289
  • [32] Successful treatment by venesection of iron overload in a patient with pyridoxine-responsive XLSA and HFE C282Y homozygosity
    May, A
    Whittaker, JA
    Phillips, IT
    Bishop, DF
    BRITISH JOURNAL OF HAEMATOLOGY, 1999, 105 : 72 - 72
  • [33] Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria
    Silao, Catherine Lynn T.
    Fabella, Terence Diane F.
    Rama, Kahlil Izza D.
    Estrada, Sylvia C.
    PEDIATRICS INTERNATIONAL, 2015, 57 (05) : 884 - 887
  • [34] R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity
    Furuyama, K
    Uno, R
    Urabe, A
    Hayashi, N
    Fujita, H
    Kondo, M
    Sassa, S
    Yamamoto, M
    BRITISH JOURNAL OF HAEMATOLOGY, 1998, 103 (03) : 839 - 841
  • [35] Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients
    Mendes, Marisa I. S.
    Colaco, Henrique G.
    Smith, Desiree E. C.
    Ramos, Ruben J. J. F.
    Pop, Ana
    van Dooren, Silvy J. M.
    de Almeida, Isabel Tavares
    Kluijtmans, Leo A. J.
    Janssen, Mirian C. H.
    Rivera, Isabel
    Salomons, Gajja S.
    Leandro, Paula
    Blom, Henk J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (02) : 245 - 254
  • [36] Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency
    Lu, Yitong
    Zhao, Shaozhi
    He, Xiaohui
    Yang, Hua
    Wang, Xiaolei
    Miao, Chen
    Liu, Hongwei
    Zhang, Xinwen
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [37] Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients
    Khalil, Adila
    Khan, Haq Nawaz
    Wasim, Muhammad
    Ayesha, Hina
    Awan, Fazli Rabbi
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2024, 43 (06): : 517 - 529
  • [38] Identification of MMACHC gene mutations in Northern Chinese cblC patients with combined methylmalonic acidemia and homocystinuria
    Liu, M. Y.
    Chiang, S. H.
    Yang, Y. L.
    Hsiao, K. J.
    Liu, T. T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 103 - 103
  • [39] Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency
    Yitong Lu
    Shaozhi Zhao
    Xiaohui He
    Hua Yang
    Xiaolei Wang
    Chen Miao
    Hongwei Liu
    Xinwen Zhang
    BMC Medical Genomics, 15
  • [40] Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia
    Xiaohuan Cheng
    Junfa Ding
    Fang Zheng
    Xin Zhou
    Chenling Xiong
    Molecular Biology Reports, 2009, 36 : 2053 - 2057