Literature DB >> 22507161

Mild case of D-bifunctional protein deficiency associated with novel gene mutations.

Hiroshi Mizumoto, Ryoko Akashi, Norikatsu Hikita, Akira Kumakura, Yoko Yoshida, Ayako Honda, Nobuyuki Shimozawa, Daisuke Hata.   

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Year:  2012        PMID： 22507161     DOI： 10.1111/j.1442-200X.2012.03562.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  4 in total

1.  Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity.

Authors:  Shirou Tsuchida; Akihiro Osaka; Yuya Abe; Naoya Hamaue; Takashi Aoki
Journal:  Mol Genet Metab Rep       Date:  2014-12-18

2.  D-bifunctional Protein Deficiency: A Case Report of a Turkish Child.

Authors:  Faruk Incecik; Neslihan O Mungan
Journal:  Ann Indian Acad Neurol       Date:  2019 Jan-Mar       Impact factor: 1.383

3.  Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency.

Authors:  Cristel C Chapel-Crespo; Ricardo Villalba; Raymond Wang; Monica Boyer; Richard Chang; Hans R Waterham; Jose E Abdenur
Journal:  Mol Genet Metab Rep       Date:  2020-06-05

4.  Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.

Authors:  Yukiko Matsuda; Hiroyuki Morino; Ryosuke Miyamoto; Takashi Kurashige; Kodai Kume; Noriyoshi Mizuno; Yuhei Kanaya; Yui Tada; Ryosuke Ohsawa; Kazunori Yokota; Nobuyuki Shimozawa; Hirofumi Maruyama; Hideshi Kawakami
Journal:  Neurol Genet       Date:  2020-01-16
  4 in total

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