Literature DB >> 30364125

Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Glenda Espinosa-Barberi1,2, Sara Miranda Fernández1, Michel Ernesto Valdés Martín3, María Ángeles Betancor Perdomo4, Carmen Julissa Aguilar Rosales4.   

Abstract

Entities:  

Year:  2018        PMID： 30364125      PMCID： PMC6192966          DOI： 10.18240/ijo.2018.10.25

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN： 2222-3959            Impact factor:   1.779


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  10 in total

1.  Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.

Authors:  T Tyni; T Kivelä; M Lappi; P Summanen; E Nikoskelainen; H Pihko
Journal:  Ophthalmology       Date:  1998-05       Impact factor: 12.079

2.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

Authors:  A Llorca-Cardeñosa; J Català-Mora; A García-Cazorla; S Meavilla; E Castejón-Ponce
Journal:  Arch Soc Esp Oftalmol       Date:  2016-02-16

Review 3.  Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches.

Authors:  J Angdisen; V D G Moore; J M Cline; R M Payne; J A Ibdah
Journal:  Curr Drug Targets Immune Endocr Metabol Disord       Date:  2005-03

4.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype.

Authors:  L Ijlst; S Uskikubo; T Kamijo; T Hashimoto; J P Ruiter; J B de Klerk; R J Wanders
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 5.  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

6.  Neonatal screening for defects of the mitochondrial trifunctional protein.

Authors:  Johannes Sander; Stefanie Sander; Ulrike Steuerwald; Nils Janzen; Michael Peter; Ronald J A Wanders; Iris Marquardt; G Christoph Korenke; Anibh M Das
Journal:  Mol Genet Metab       Date:  2005-03-24       Impact factor: 4.797

7.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.

Authors:  Margarethe E J den Boer; Ronald J A Wanders; Andrew A M Morris; Lodewijk IJlst; Hugo S A Heymans; Frits A Wijburg
Journal:  Pediatrics       Date:  2002-01       Impact factor: 7.124

8.  Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor.

Authors:  V Sturm
Journal:  Eur J Ophthalmol       Date:  2008 May-Jun       Impact factor: 2.597

Review 9.  The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  R Pons; M Roig; E Riudor; A Ribes; P Briones; L Ortigosa; A Baldellou; J Gil-Gibernau; M Olesti; C Navarro; R J Wanders
Journal:  Pediatr Neurol       Date:  1996-04       Impact factor: 3.372

Review 10.  Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review.

Authors:  A Pandor; J Eastham; C Beverley; J Chilcott; S Paisley
Journal:  Health Technol Assess       Date:  2004-03       Impact factor: 4.014
  10 in total

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