Literature DB >> 26206388

Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.

Josef Finsterer1, Sinda Zarrouk-Majoub2.   

Abstract

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Year:  2015        PMID： 26206388     DOI： 10.1007/s00431-015-2598-1

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  12 in total

1.  Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

Authors:  K E Orii; T Aoyama; K Wakui; Y Fukushima; H Miyajima; S Yamaguchi; T Orii; N Kondo; T Hashimoto
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

2.  A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.

Authors:  Mariko Yagi; Tomoko Lee; Hiroyuki Awano; Masahiro Tsuji; Go Tajima; Hironori Kobayashi; Yuki Hasegawa; Seiji Yamaguchi; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  Mol Genet Metab       Date:  2011-09-28       Impact factor: 4.797

3.  Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.

Authors:  Gaetano Terrone; Margherita Ruoppolo; Nicola Brunetti-Pierri; Carla Cozzolino; Emanuela Scolamiero; Giancarlo Parenti; Alfonso Romano; Generoso Andria; Francesco Salvatore; Giulia Frisso
Journal:  Neurology       Date:  2014-01-07       Impact factor: 9.910

4.  Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Authors:  Eugène F Diekman; Carolien C A Boelen; Berthil H C M T Prinsen; Lodewijk Ijlst; Marinus Duran; Tom J de Koning; Hans R Waterham; Ronald J A Wanders; Frits A Wijburg; Gepke Visser
Journal:  JIMD Rep       Date:  2012-03-31

5.  Severe combined immunodeficiency resulting from mutations in MTHFD1.

Authors:  Michael D Keller; Jaya Ganesh; Meredith Heltzer; Michele Paessler; A G Christina Bergqvist; H Jorge Baluarte; David Watkins; David S Rosenblatt; Jordan S Orange
Journal:  Pediatrics       Date:  2013-01-06       Impact factor: 7.124

Review 6.  Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Authors:  Autumn L Fletcher; Mark E Pennesi; Cary O Harding; Richard G Weleber; Melanie B Gillingham
Journal:  Mol Genet Metab       Date:  2012-03-08       Impact factor: 4.797

7.  Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.

Authors:  Tomoko Kobayashi; Sawako Minami; Ayuki Mitani; Yuko Tanizaki; Mina Booka; Takahiro Okutani; Seiji Yamaguchi; Kazuhiko Ino
Journal:  J Obstet Gynaecol Res       Date:  2014-11-25       Impact factor: 1.730

8.  Familal left ventricular hypertrabeculation (noncompaction) is myopathic.

Authors:  Josef Finsterer; Claudia Stöllberger; Gerhardt Blazek; Ernst Sehnal
Journal:  Int J Cardiol       Date:  2011-07-23       Impact factor: 4.164

9.  Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

Authors:  Hyung-Doo Park; Suk Ran Kim; Chang-Seok Ki; Soo-Youn Lee; Yun Sil Chang; Dong-Kyu Jin; Won-Soon Park
Journal:  Ann Clin Lab Sci       Date:  2009       Impact factor: 1.256

10.  Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Authors:  Ute Spiekerkoetter; Bin Sun; Zaza Khuchua; Michael J Bennett; Arnold W Strauss
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878
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