Literature DB >> 10709659

The use of [9,10-3H]myristate, [9,10-3H]palmitate and [9,10-3H]oleate for the detection and diagnosis of medium and long-chain fatty acid oxidation disorders in intact cultured fibroblasts.

S E Olpin1, N J Manning, R J Pollitt, J R Bonham, M Downing, S Clark.   

Abstract

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Year:  1999        PMID： 10709659     DOI： 10.1007/0-306-46818-2_37

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  9 in total

1.  Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

Authors:  P Bala; S Ferdinandusse; S E Olpin; P Chetcuti; A A M Morris
Journal:  JIMD Rep       Date:  2015-09-25

2.  Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.

Authors:  K Carpenter; V Wiley; K G Sim; D Heath; B Wilcken
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2001-09       Impact factor: 5.747

3.  Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile.

Authors:  K G Sim; V Wiley; K Carpenter; B Wilcken
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

4.  Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects.

Authors:  J H Osorio; M Lluch; A Ribes
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Authors:  Eugene F Diekman; Sacha Ferdinandusse; Ludo van der Pol; Hans R Waterham; Jos P N Ruiter; Lodewijk Ijlst; Ronald J Wanders; Sander M Houten; Frits A Wijburg; A Christiaan Blank; Folkert W Asselbergs; Riekelt H Houtkooper; Gepke Visser
Journal:  Genet Med       Date:  2015-04-02       Impact factor: 8.822

6.  Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.

Authors:  Juliet Oerton; Javaria M Khalid; Guy Besley; R Neil Dalton; Melanie Downing; Anne Green; Mick Henderson; Steve Krywawych; James Leonard; Brage S Andresen; Carol Dezateux
Journal:  J Med Screen       Date:  2011-12-13       Impact factor: 2.136

7.  Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.

Authors:  David Olsson; Michela Barbaro; Charlotte Haglind; Maria Halldin; Svetlana Lajic; Sara Tucci; Rolf H Zetterström; Anna Nordenström
Journal:  JIMD Rep       Date:  2022-01-09

8.  Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.

Authors:  Marit Schwantje; Sabine A Fuchs; Lonneke de Boer; Annet M Bosch; Inge Cuppen; Eugenie Dekkers; Terry G J Derks; Sacha Ferdinandusse; Lodewijk Ijlst; Riekelt H Houtkooper; Rose Maase; W Ludo van der Pol; Maaike C de Vries; Rendelien K Verschoof-Puite; Ronald J A Wanders; Monique Williams; Frits Wijburg; Gepke Visser
Journal:  J Inherit Metab Dis       Date:  2022-04-19       Impact factor: 4.750

9.  Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Authors:  Marit Schwantje; Merel S Ebberink; Mirjam Doolaard; Jos P N Ruiter; Sabine A Fuchs; Niklas Darin; Carola Hedberg-Oldfors; Luc Régal; Laura Donker Kaat; Hidde H Huidekoper; Simon Olpin; Duncan Cole; Stuart J Moat; Gepke Visser; Sacha Ferdinandusse
Journal:  J Inherit Metab Dis       Date:  2022-05-05       Impact factor: 4.750
  9 in total

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