RETROSPECTIVE STUDY OF THE THE NATURAL HISTORY AND DISEASE COURSE IN 83 PATIENTS WITH ISOLATED METHYLMALONIC ACIDEMIA CAUSED BY METHYLMALONYL-COA MUTASE GENE (MMUT) MUTATIONS

被引：0
|
作者：
AlSayed, Moeenaldeen [1 ,2 ]
Almasseri, Zainab [1 ]
机构：
[1] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia
[2] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia
来源：
MOLECULAR GENETICS AND METABOLISM | 2022年 / 135卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
10
引用
收藏
页码：258 / 258
页数：1
相关论文
共 20 条
  • [1] Methylmalonyl-CoA mutase gene mutations in Japanese patients with methylmalonic acidemia
    Oyama, C.
    Narita, A.
    Noguchi, A.
    Oyamada, M.
    Takahashi, T.
    Takada, G.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 106 - 106
  • [2] Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
    Sawangareetrakul, Phannee
    Ketudat Cairns, James R.
    Vatanavicharn, Nithiwat
    Liammongkolkul, Somporn
    Wasant, Pornswan
    Svasti, Jisnuson
    Champattanachai, Voraratt
    BIOCHEMICAL GENETICS, 2015, 53 (11-12) : 310 - 318
  • [3] Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
    Phannee Sawangareetrakul
    James R. Ketudat Cairns
    Nithiwat Vatanavicharn
    Somporn Liammongkolkul
    Pornswan Wasant
    Jisnuson Svasti
    Voraratt Champattanachai
    Biochemical Genetics, 2015, 53 : 310 - 318
  • [4] Three new mutations in the methylmalonyl-CoA mutase gene in Mexican patients with methylmalonic acidemia.
    Méndez, ST
    Vela, M
    Petrosyan, P
    Velázquez, A
    Ibarra, I
    Olivares, Z
    Arnold, K
    Flores, ME
    MOLECULAR GENETICS AND METABOLISM, 2005, 84 (03) : 230 - 230
  • [5] Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia
    Teresa Mendez, Sara
    Vela-Amieva, Marcela
    Velazquez-Arellano, Antonio
    Ibarra, Isabel
    Elena Flores, Maria
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 2012, 64 (03): : 255 - 261
  • [6] In vivo Genome Editing to Treat Methylmalonic Acidemia (MMA) Caused by Methylmalonyl-CoA Mutase Deficiency (hMUT)
    Schneller, Jessica L.
    Lee, Ciaran M.
    Li, Ang
    Cradick, Thomas J.
    Chandler, Randy J.
    Hurley, Ayrea E.
    Lagor, William R.
    Bao, Gang
    Venditti, Charles P.
    MOLECULAR THERAPY, 2019, 27 (04) : 369 - 369
  • [7] In Vivo Genome Editing at the Albumin Locus Corrects Two New Mouse Models of Methylmalonic Acidemia (MMA) Caused by Methylmalonyl-CoA Mutase Deficiency (Mmut)
    Schneller, Jessica L.
    Lee, Ciaran M.
    Li, Ang
    Cradick, Thomas J.
    Chandler, Randy J.
    Hurley, Ayrea E.
    Lagor, William R.
    Bao, Gang
    Venditti, Charles P.
    MOLECULAR THERAPY, 2020, 28 (04) : 419 - 419
  • [8] IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE METHYLMALONYL-COA MUTASE GENE WITH DECREASED LEVELS OF MUTANT MESSENGER-RNA IN METHYLMALONIC ACIDEMIA
    OGASAWARA, M
    MATSUBARA, Y
    MIKAMI, H
    NARISAWA, K
    HUMAN MOLECULAR GENETICS, 1994, 3 (06) : 867 - 872
  • [9] Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl
    Oyama, Chikako
    Takahashi, Tsutomu
    Matsumori, Mika
    Shoji, Yutaka
    Tajima, Gou
    Sakura, Nobuo
    Hasegawa, Yuki
    Yamaguchi, Seiji
    Kakinuma, Hiroaki
    Takada, Goro
    PEDIATRICS INTERNATIONAL, 2007, 49 (02) : 232 - 234
  • [10] Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients
    Mohamed, Sarar
    Hamad, Muddathir H.
    Abu-Amero, Khaled K.
    SAUDI MEDICAL JOURNAL, 2015, 36 (09) : 1110 - 1114
12