A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report

被引：0
|
作者：
Loredana De Pasquale
Petronilla Meo
Francesco Fulia
Antonio Anania
Valerio Meli
Antonina Mondello
Maria Tindara Raimondo
Viviana Tulino
Maria Sole Coletta
Caterina Cacace
机构：
[1] Barone Romeo Hospital,Azienda Sanitaria Provinciale di Messina
来源：
Italian Journal of Pediatrics | / 48卷
关键词：
ETF; ETFDH ; Glutaric aciduria type II; Multiple acyl-CoA dehydrogenase deficiency; Case report;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report
    De Pasquale, Loredana
    Meo, Petronilla
    Fulia, Francesco
    Anania, Antonio
    Meli, Valerio
    Mondello, Antonina
    Raimondo, Maria Tindara
    Tulino, Viviana
    Coletta, Maria Sole
    Cacace, Caterina
    ITALIAN JOURNAL OF PEDIATRICS, 2022, 48 (01)
  • [2] A case of late onset multiple acyl-CoA dehydrogenase deficiency with novel ETFDH mutation
    Shin, J.
    Hong, Y.
    Sung, J.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S71 - S71
  • [3] A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency
    van der Westhuizena, Francois H.
    Smuts, Izelle
    Honey, Engela
    Louw, Roan
    Schoonen, Maryke
    Jonck, Lindi-Maryn
    Dercksen, Marli
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2018, 384 : 121 - 125
  • [4] A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene
    Zhuo, Zhihong
    Jin, Peina
    Li, Fengyan
    Li, Haiying
    Chen, Xiaoxin
    Wang, Huaili
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 353 (1-2) : 84 - 86
  • [5] A Case of Late-onset Riboflavin Responsive Multiple acyl-CoA Dehydrogenase Deficiency with Novel Mutations in ETFDH Gene
    Zhao, Zhang-Ning
    Bao, Meng-Xin
    Ma, Gao-Ting
    Liu, Xiao-Min
    Xu, Wen-Juan
    Sun, Zhong-Wen
    Chen, Huan
    Zhu, Mei-Jia
    CNS NEUROSCIENCE & THERAPEUTICS, 2012, 18 (11) : 952 - 954
  • [6] Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH A case report
    Wang, Juan
    Wu, Jun-Cang
    Yu, Xu-En
    Han, Yong-Zhu
    Yang, Ren-Min
    MEDICINE, 2018, 97 (48)
  • [7] Case of elderly-onset multiple acyl-CoA dehydrogenase deficiency with a novel ETFDH mutation shows progressive muscle weakness and rhabdomyolysis
    Seino, Yusuke
    Nakamura, Takumi
    Kawarabayashi, Takeshi
    Wakasaya, Yasuhito
    Hayashi, Yukiko K.
    Okubo, Mariko
    Nishino, Ichizo
    Shoji, Mikio
    NEUROLOGY AND CLINICAL NEUROSCIENCE, 2018, 6 (02): : 39 - 41
  • [8] Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report
    Tian, Huihong
    Zhong, Yi
    Liu, Zhihua
    Wei, Liping
    Yuan, Yanbo
    Zhang, Yuhu
    Wang, Limin
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [9] MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY - A NEONATAL ONSET CASE RESPONSIVE TO TREATMENT
    VERJEE, ZH
    SHERWOOD, WG
    JOURNAL OF INHERITED METABOLIC DISEASE, 1985, 8 : 137 - 138
  • [10] Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency
    Yuan, Gaopin
    Zhang, Xiaohong
    Chen, Tingli
    Lin, Jiansheng
    FRONTIERS IN PEDIATRICS, 2023, 10
12345