Literature DB >> 10384392

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.

P Vreken1, A E van Lint, A H Bootsma, H Overmars, R J Wanders, A H van Gennip.   

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Year:  1999        PMID： 10384392     DOI： 10.1023/a:1005587617745

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


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  9 in total

1.  Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism.

Authors:  D S Millington; N Kodo; D L Norwood; C R Roe
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Prenatal diagnosis of mitochondrial fatty acid oxidation defects.

Authors:  M A Nada; C Vianey-Saban; C R Roe; J H Ding; M Mathieu; R S Wappner; M G Bialer; J A McGlynn; G Mandon
Journal:  Prenat Diagn       Date:  1996-02       Impact factor: 3.050

3.  Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

Authors:  M S Rashed; M P Bucknall; D Little; A Awad; M Jacob; M Alamoudi; M Alwattar; P T Ozand
Journal:  Clin Chem       Date:  1997-07       Impact factor: 8.327

4.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Authors:  J L Van Hove; W Zhang; S G Kahler; C R Roe; Y T Chen; N Terada; D H Chace; A K Iafolla; J H Ding; D S Millington
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

5.  Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.

Authors:  Y Shigematsu; I Hata; A Nakai; Y Kikawa; M Sudo; Y Tanaka; S Yamaguchi; C Jakobs
Journal:  Pediatr Res       Date:  1996-04       Impact factor: 3.756

6.  Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.

Authors:  D H Chace; S L Hillman; J L Van Hove; E W Naylor
Journal:  Clin Chem       Date:  1997-11       Impact factor: 8.327

7.  3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  J L van Hove; S L Rutledge; M A Nada; S G Kahler; D S Millington
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

8.  Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile.

Authors:  M S Rashed; P T Ozand; M J Bennett; J J Barnard; D R Govindaraju; P Rinaldo
Journal:  Clin Chem       Date:  1995-08       Impact factor: 8.327

9.  Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.

Authors:  M S Rashed; P T Ozand; M P Bucknall; D Little
Journal:  Pediatr Res       Date:  1995-09       Impact factor: 3.756
  9 in total
  37 in total

1.  Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

Authors:  G Tóth; E Morava; J Bene; J J Selhorst; H Overmars; P Vreken; J Molnár; V Farkas; B Melegh
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

2.  Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Authors:  Marcus J Miller; Lindsay C Burrage; James B Gibson; Meghan E Strenk; Edward J Lose; David P Bick; Sarah H Elsea; V Reid Sutton; Qin Sun; Brett H Graham; William J Craigen; Victor Wei Zhang; Lee-Jun C Wong
Journal:  Mol Genet Metab       Date:  2015-09-02       Impact factor: 4.797

3.  Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency.

Authors:  H H Huidekoper; J Schneider; T Westphal; F M Vaz; M Duran; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2006-08-02       Impact factor: 4.982

4.  Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids.

Authors:  Sander M Houten; Simone Denis; Carmen A Argmann; Yuzhi Jia; Sacha Ferdinandusse; Janardan K Reddy; Ronald J A Wanders
Journal:  J Lipid Res       Date:  2012-04-25       Impact factor: 5.922

5.  Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Authors:  Magalie Barth; Chris Ottolenghi; Laurence Hubert; Dominique Chrétien; Valérie Serre; Stéphanie Gobin; Stéphane Romano; Anne Vassault; Aziz Sefiani; Daniel Ricquier; Nathalie Boddaert; Michèle Brivet; Yves de Keyzer; Arnold Munnich; Marinus Duran; Daniel Rabier; Vassili Valayannopoulos; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2010-10-27       Impact factor: 4.982

Review 6.  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  Kenji Yamada; Takeshi Taketani
Journal:  J Hum Genet       Date:  2018-11-06       Impact factor: 3.172

7.  Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function.

Authors:  Vaishnavi Raja; Michael Salsaa; Amit S Joshi; Yiran Li; Carlo W T van Roermund; Nadia Saadat; Pablo Lazcano; Michael Schmidtke; Maik Hüttemann; Smiti V Gupta; Ronald J A Wanders; Miriam L Greenberg
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2019-02-05       Impact factor: 4.698

8.  The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.

Authors:  T Fukao; G X Zhang; N Sakura; T Kubo; H Yamaga; A Hazama; Y Kohno; N Matsuo; M Kondo; S Yamaguchi; Y Shigematsu; N Kondo
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

9.  Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.

Authors:  Moniek Riemersma; Mark R Hazebroek; Appolonia T J M Helderman-van den Enden; Gajja S Salomons; Sacha Ferdinandusse; Martijn C G J Brouwers; Liesbeth van der Ploeg; Stephane Heymans; Jan F C Glatz; Arthur van den Wijngaard; Ingrid P C Krapels; Jörgen Bierau; Han G Brunner
Journal:  Eur J Hum Genet       Date:  2017-08-30       Impact factor: 4.246

10.  Resistance to diet-induced obesity in mice with a single substituted chromosome.

Authors:  David A Buchner; Lindsay C Burrage; Annie E Hill; Soha N Yazbek; William E O'Brien; Colleen M Croniger; Joseph H Nadeau
Journal:  Physiol Genomics       Date:  2008-07-15       Impact factor: 3.107
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