Literature DB >> 16435210

Retinitis pigmentosa in mevalonate kinase deficiency.

B Balgobind1, D Wittebol-Post, J Frenkel.   

Abstract

Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician.

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Year:  2005        PMID： 16435210     DOI： 10.1007/s10545-005-0178-7

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

Review 1.  Isoprenoid metabolism in the vertebrate retina.

Authors:  S J Fliesler; R K Keller
Journal:  Int J Biochem Cell Biol       Date:  1997-06       Impact factor: 5.085

2.  Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.

Authors:  Ellen R Elias; Ronald M Hansen; Mira Irons; Nicole B Quinn; Anne B Fulton
Journal:  Arch Ophthalmol       Date:  2003-12

Review 3.  The eye as a window to inborn errors of metabolism.

Authors:  B T Poll-The; L J Maillette de Buy Wenniger-Prick; P G Barth; M Duran
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

4.  Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Authors:  Viola Prietsch; Ertan Mayatepek; Hermann Krastel; Dorothea Haas; Dorothee Zundel; Hans R Waterham; Ronald J A Wanders; K Michael Gibson; Georg F Hoffmann
Journal:  Pediatrics       Date:  2003-02       Impact factor: 7.124

5.  Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features.

Authors:  Steven J Fliesler; Neal S Peachey; Michael J Richards; Barbara A Nagel; Dana K Vaughan
Journal:  Arch Ophthalmol       Date:  2004-08

6.  Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr).

Authors:  D Yan; P K Swain; D Breuer; R M Tucker; W Wu; R Fujita; A Rehemtulla; D Burke; A Swaroop
Journal:  J Biol Chem       Date:  1998-07-31       Impact factor: 5.157

7.  Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Authors:  A Simon; H P H Kremer; R A Wevers; H Scheffer; J G De Jong; J W M Van Der Meer; J P H Drenth
Journal:  Neurology       Date:  2004-03-23       Impact factor: 9.910
  7 in total
  5 in total

Review 1.  The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.

Authors:  Vittoria Bascherini; Carmela Granato; Giuseppe Lopalco; Giacomo Emmi; Lorenzo Vannozzi; Daniela Bacherini; Rossella Franceschini; Florenzo Iannone; Annabella Salerni; Francesco Molinaro; Mario Messina; Bruno Frediani; Carlo Selmi; Donato Rigante; Luca Cantarini
Journal:  Clin Rheumatol       Date:  2015-04-02       Impact factor: 2.980

2.  Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

Authors:  Stephan Züchner; Julia Dallman; Rong Wen; Gary Beecham; Adam Naj; Amjad Farooq; Martin A Kohli; Patrice L Whitehead; William Hulme; Ioanna Konidari; Yvonne J K Edwards; Guiqing Cai; Inga Peter; David Seo; Joseph D Buxbaum; Jonathan L Haines; Susan Blanton; Juan Young; Eduardo Alfonso; Jeffery M Vance; Byron L Lam; Margaret A Peričak-Vance
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

Review 3.  Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.

Authors:  Isabelle Touitou
Journal:  Genes Dis       Date:  2021-06-09

Review 4.  Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Authors:  Carla Gaggiano; Donato Rigante; Antonio Vitale; Orso Maria Lucherini; Alessandra Fabbiani; Giovanna Capozio; Chiara Marzo; Viviana Gelardi; Salvatore Grosso; Bruno Frediani; Alessandra Renieri; Luca Cantarini
Journal:  Mediators Inflamm       Date:  2019-12-31       Impact factor: 4.711

Review 5.  Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.

Authors:  Frouwkje A Politiek; Hans R Waterham
Journal:  Front Immunol       Date:  2021-09-03       Impact factor: 7.561
  5 in total

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