Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers

[1]  T. Taketani,et al.  Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby , 2019, JIMD reports.

[2]  T. Taketani,et al.  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency , 2018, Journal of Human Genetics.

[3]  Dong Hwan Lee,et al.  Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening , 2018, Molecular genetics and metabolism reports.

[4]  S. Yamaguchi,et al.  Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation , 2018, Molecular genetics and metabolism reports.

[5]  H. Shiraishi,et al.  Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan , 2018, Molecular genetics and metabolism reports.

[6]  C. Pérez-Cerdá,et al.  Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. , 2018, JIMD reports.

[7]  J. Furuta,et al.  A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations , 2016, Journal of the Neurological Sciences.

[8]  E. Bayram,et al.  Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases , 2014, Annals of Indian Academy of Neurology.

[9]  K. Bhattacharya,et al.  Expanded newborn screening in New South Wales: missed cases , 2014, Journal of Inherited Metabolic Disease.

[10]  S. Vedal,et al.  Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. , 2014, Molecular genetics and metabolism.

[11]  J. Jans,et al.  Differences between acylcarnitine profiles in plasma and bloodspots. , 2013, Molecular genetics and metabolism.

[12]  J. Vockley,et al.  Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. , 2013, Molecular genetics and metabolism.

[13]  K. Al-Thihli,et al.  Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis , 2014, Journal of Inherited Metabolic Disease.

[14]  Gary L Hoffman,et al.  Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project , 2011, Genetics in Medicine.

[15]  M. Yudkoff,et al.  Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. , 2010, The Journal of pediatrics.

[16]  S. Cederbaum,et al.  A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. , 2009, Molecular genetics and metabolism.

[17]  E. Naito,et al.  Development of a New Enzymatic Diagnosis Method for Very-long-chain Acyl-CoA Dehydrogenase Deficiency by Detecting 2-Hexadecenoyl-CoA Production and its Application in Tandem Mass Spectrometry-based Selective Screening and Newborn Screening in Japan , 2008, Pediatric Research.

[18]  B. Andresen,et al.  VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. , 2006, Molecular genetics and metabolism.

[19]  Yukie Tanaka,et al.  Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. , 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

[20]  Yukie Tanaka,et al.  Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. , 2002, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

[21]  W. Stoffel,et al.  Disruption of Mitochondrial β-Oxidation of Unsaturated Fatty Acids in the 3,2-trans-Enoyl-CoA Isomerase-deficient Mouse* , 2002, The Journal of Biological Chemistry.

[22]  D. Chace,et al.  Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. , 2001, Clinical chemistry.

[23]  L. D. Schroeder,et al.  Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. , 1999, American journal of human genetics.

[24]  M. Jacob,et al.  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. , 1997, Clinical chemistry.

[25]  T. Hashimoto,et al.  Identification of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Three Patients Previously Diagnosed with Long-Chain Acyl-CoA Dehydrogenase Deficiency , 1993, Pediatric Research.

[26]  T. Aoyama,et al.  A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. , 1993, Biochemical and biophysical research communications.

[27]  T Hashimoto,et al.  Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. , 1992, The Journal of biological chemistry.

[28]  T Hashimoto,et al.  Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase. , 1992, The Journal of biological chemistry.

[29]  T. Hashimoto.  Peroxisomal and mitochondrial enzymes. , 1992, Progress in clinical and biological research.