Literature DB >> 9221344

Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.

G A Jansen, R J Wanders, P A Watkins, S J Mihalik.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9221344     DOI： 10.1056/NEJM199707103370215

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  14 in total

1.  Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome.

Authors:  G A Jansen; S Denis; N M Verhoeven; C Jakobs; R J Wanders
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

Review 2.  Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Authors:  R J Wanders
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

3.  Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.

Authors:  G A Jansen; S Ferdinandusse; O H Skjeldal; O Stokke; C J de Groot; C Jakobs; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

4.  Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.

Authors:  G A Jansen; S J Mihalik; P A Watkins; H W Moser; C Jakobs; H S Heijmans; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

Review 5.  [Adult Refsum disease. A retinal dystrophy with therapeutic options].

Authors:  K Rüther
Journal:  Ophthalmologe       Date:  2005-08       Impact factor: 1.059

6.  A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.

Authors:  Wang-Yang Xu; Ming-Min Gu; Lian-Hua Sun; Wen-Ting Guo; Hou-Bao Zhu; Jian-Fang Ma; Wen-Tao Yuan; Ying Kuang; Bao-Jun Ji; Xiao-Lin Wu; Yan Chen; Hong-Xin Zhang; Fu-Ting Sun; Wei Huang; Lei Huang; Sheng-di Chen; Zhu-Gang Wang
Journal:  Am J Hum Genet       Date:  2012-11-08       Impact factor: 11.025

7.  Transport of phytanic acid on lipoproteins in Refsum disease.

Authors:  A S Wierzbicki; A Sankaralingam; P J Lumb; T C Hardman; M C Sidey; F B Gibberd
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

8.  Infantile Refsum disease: serial evaluation with MRI.

Authors:  Sinan Cakirer; Mahmut R Savas
Journal:  Pediatr Radiol       Date:  2004-10-06

9.  Glyoxalate reductase/hydroxypyruvate reductase interacts with the sodium-dependent vitamin C transporter-1 to regulate cellular vitamin C homeostasis.

Authors:  Veedamali S Subramanian; Svetlana M Nabokina; Joseph R Patton; Jonathan S Marchant; Hamid Moradi; Hamid M Said
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2013-04-18       Impact factor: 4.052

10.  Infantile refsum disease: case report.

Authors:  Vaishali Choksi; Ellen Hoeffner; Ercan Karaarslan; Cengiz Yalcinkaya; Sinan Cakirer
Journal:  AJNR Am J Neuroradiol       Date:  2003 Nov-Dec       Impact factor: 3.825
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.