New type-4 D-bifunctional protein deficiency caused by compound heterozygous mutation of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4)

被引:0
|
作者
McMillan, H. J.
Worthylake, T.
Geraghty, M.
Bulman, D.
Gottlieb, C.
Coupand, S.
Lawrence, S.
Boycott, K. M.
机构
[1] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada
[2] Ottawa Eye Inst, Ottawa, ON, Canada
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:S43 / S43
页数:1
相关论文
共 44 条
  • [1] Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
    McMillan, Hugh J.
    Worthylake, Thea
    Schwartzentruber, Jeremy
    Gottlieb, Chloe C.
    Lawrence, Sarah E.
    MacKenzie, Alex
    Beaulieu, Chandree L.
    Mooyer, Petra A. W.
    Wanders, Ronald J. A.
    Majewski, Jacek
    Bulman, Dennis E.
    Geraghty, Michael T.
    Ferdinandusse, Sacha
    Boycott, Kym M.
    ORPHANET JOURNAL OF RARE DISEASES, 2012, 7
  • [2] Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
    Hugh J McMillan
    Thea Worthylake
    Jeremy Schwartzentruber
    Chloe C Gottlieb
    Sarah E Lawrence
    Alex MacKenzie
    Chandree L Beaulieu
    Petra A W Mooyer
    Ronald J A Wanders
    Jacek Majewski
    Dennis E Bulman
    Michael T Geraghty
    Sacha Ferdinandusse
    Kym M Boycott
    Orphanet Journal of Rare Diseases, 7
  • [3] Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review
    Chen, Si
    Du, Linrun
    Lei, Yihui
    Lin, Yuanyuan
    Chen, Shangqin
    Liu, Yanli
    FRONTIERS IN PEDIATRICS, 2021, 9
  • [4] First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea
    Bae, Eun Young
    Yi, Yoonyoung
    Lim, Han Hyuk
    Lee, Jiwon M.
    Lee, Bongjin
    Kim, Seung Yeon
    Kim, Yoo-Mi
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2020, 35 (39)
  • [5] Characterization of the HSD17B4 gene:: D-specific multifunctional protein 2/17β-hydroxysteroid dehydrogenase IV
    Möller, G
    Leenders, F
    van Grunsven, EG
    Dolez, V
    Qualmann, B
    Kessels, MM
    Markus, M
    Krazeisen, A
    Husen, B
    Wanders, RJA
    de Launoit, Y
    Adamski, J
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1999, 69 (1-6): : 441 - 446
  • [6] Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency
    Amor, David J.
    Marsh, Ashley P.
    Storey, Elsdon
    Tankard, Rick
    Gillies, Greta
    Delatycki, Martin B.
    Pope, Kate
    Bromhead, Catherine
    Leventer, Richard J.
    Bahlo, Melanie
    Lockhart, Paul J.
    NEUROLOGY-GENETICS, 2016, 2 (06)
  • [7] Unique multifunctional HSD17B4 gene product:: 17β-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase hydratase involved in Zellweger syndrome
    de Launoit, Y
    Adamski, J
    JOURNAL OF MOLECULAR ENDOCRINOLOGY, 1999, 22 (03) : 227 - 240
  • [8] Developing antineoplastic agents that target peroxisomal enzymes: cytisine-linked isoflavonoids as inhibitors of hydroxysteroid 17-beta-dehydrogenase-4 (HSD17B4)
    Frasinyuk, Mykhaylo S.
    Zhang, Wen
    Wyrebek, Przemyslaw
    Yu, Tianxin
    Xu, Xuehe
    Sviripa, Vitaliy M.
    Bondarenko, Svitlana P.
    Xie, Yanqi
    Ngo, Huy X.
    Morris, Andrew J.
    Mohler, James L.
    Fiandalo, Michael V.
    Watt, David S.
    Liu, Chunming
    ORGANIC & BIOMOLECULAR CHEMISTRY, 2017, 15 (36) : 7623 - 7629
  • [9] HSD17B4 mutation: an unusual cause of cerebellar ataxia
    Mehta, Sahil
    Singh, Jagdeep
    Sharma, Ashish
    Kumar, Manoj
    Lal, Vivek
    NEUROLOGICAL SCIENCES, 2025, 46 (02) : 1055 - 1057
  • [10] Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
    Idyahia, Assia
    Redouan, Salaheddine
    Amalou, Ghita
    Charoute, Hicham
    Harmak, Houda
    Bonnet, Crystel
    Petit, Christine
    Benrahma, Houda
    Barakat, Abdelhamid
    MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)