Literature DB >> 11562630

Neonatal presentation of coenzyme Q10 deficiency.

S Rahman1, I Hargreaves, P Clayton, S Heales.   

Abstract

We report a neonate with ubiquinone deficiency. Skeletal muscle analysis revealed markedly diminished mitochondrial complex II + III activity that could be restored by addition of a ubiquinone analogue. Ubiquinone deficiency was confirmed by high-performance liquid chromatography. Oral ubiquinone therapy was not associated with clinical improvement; the patient died at 2 years.

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Year:  2001        PMID： 11562630     DOI： 10.1067/mpd.2001.117575

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  41 in total

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Journal:  Neurochem Res       Date:  2004-03       Impact factor: 3.996

Review 2.  Glomerular diseases: genetic causes and future therapeutics.

Authors:  Chih-Kang Chiang; Reiko Inagi
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Review 3.  Role of mitochondria in multiple sclerosis.

Authors:  Bernadette Kalman
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Review 4.  Some observations upon biochemical causes of ataxia and a new disease entity ubiquinone, CoQ10 deficiency.

Authors:  John M Land; Simon J R Heales; Andrew J Duncan; Iain P Hargreaves
Journal:  Neurochem Res       Date:  2006-12-21       Impact factor: 3.996

5.  176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.

Authors:  Shamima Rahman; Catherine F Clarke; Michio Hirano
Journal:  Neuromuscul Disord       Date:  2011-07-01       Impact factor: 4.296

6.  Design and implementation of the first randomized controlled trial of coenzyme CoQ₁₀ in children with primary mitochondrial diseases.

Authors:  Peter W Stacpoole; Ton J deGrauw; Annette S Feigenbaum; Charles Hoppel; Douglas S Kerr; Shawn E McCandless; Michael V Miles; Brian H Robinson; Peter H Tang
Journal:  Mitochondrion       Date:  2012-09-25       Impact factor: 4.160

7.  Pathomechanisms in coenzyme q10-deficient human fibroblasts.

Authors:  Luis C López; Marta Luna-Sánchez; Laura García-Corzo; Catarina M Quinzii; Michio Hirano
Journal:  Mol Syndromol       Date:  2014-07

Review 8.  Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Authors:  Maria Andrea Desbats; Giada Lunardi; Mara Doimo; Eva Trevisson; Leonardo Salviati
Journal:  J Inherit Metab Dis       Date:  2014-08-05       Impact factor: 4.982

9.  Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.

Authors:  Luis C López; Catarina M Quinzii; Estela Area; Ali Naini; Shamima Rahman; Markus Schuelke; Leonardo Salviati; Salvatore Dimauro; Michio Hirano
Journal:  PLoS One       Date:  2010-07-30       Impact factor: 3.240

Review 10.  Biochemical diagnosis of mitochondrial disorders.

Authors:  Richard J T Rodenburg
Journal:  J Inherit Metab Dis       Date:  2010-05-04       Impact factor: 4.982
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