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

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

(2018) Eungu Kang et al.   BMC Pediatrics

Next generation sequencing as a follow-up test in an expanded newborn screening programme

(2018) Andraz Smon et al.   CLINICAL BIOCHEMISTRY

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

(2018) Jeannette C. Bleeker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases

(2017) Ryosuke Bo et al.   JOURNAL OF HUMAN GENETICS

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

(2017) Melanie B. Gillingham et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

(2017) Yuval E. Landau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

(2017) J. Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

(2017) M. Auranen et al.   NEUROMUSCULAR DISORDERS

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

(2016) Rikke K.J. Olsen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L

(2016) Atsushi Shima et al.   INTERNAL MEDICINE

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment

(2016) Bryony Ryder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Triheptanoin: long-term effects in the very long-chain acyl-CoA dehydrogenase-deficient mouse

(2016) Sara Tucci et al.   JOURNAL OF LIPID RESEARCH

A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations

(2016) Fumiko Yamamoto et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

(2016) J. Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

(2016) Loren D.M. Pena et al.   MOLECULAR GENETICS AND METABOLISM

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

(2016) Manuel Schiff et al.   NEW ENGLAND JOURNAL OF MEDICINE

Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response

(2015) Nithiwat Vatanavicharn et al.   BRAIN & DEVELOPMENT

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

(2015) Eugene F. Diekman et al.   GENETICS IN MEDICINE

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review

(2015) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15years Experience

(2015) Charles R. Roe et al.   MOLECULAR GENETICS AND METABOLISM

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

(2015) Marcus J. Miller et al.   MOLECULAR GENETICS AND METABOLISM

Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events

(2015) Tomoo Takahashi et al.   PEDIATRICS INTERNATIONAL

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis

(2014) Emmanuel Scalais et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases

(2014) Yasemin Topçu et al.   Annals of Indian Academy of Neurology

Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis

(2014) Yoichiro Takahashi et al.   FORENSIC SCIENCE INTERNATIONAL

Glutaric Aciduria Type II Presenting as Myopathy and Rhabdomyolysis in a Teenager

(2014) Manish Prasad et al.   JOURNAL OF CHILD NEUROLOGY

Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?

(2014) Jean Bastin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Expanded newborn screening in New South Wales: missed cases

(2014) Jane Estrella et al.   JOURNAL OF INHERITED METABOLIC DISEASE

No effect of bezafibrate in patients with CPTII and VLCAD deficiencies

(2014) Mette Cathrine Ørngreen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial

(2014) M. C. Orngreen et al.   NEUROLOGY

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

(2014) Sarah C Grünert   Orphanet Journal of Rare Diseases

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

(2013) Khalid Al-Thihli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype–Phenotype analysis of 50 patients

(2013) Pushpa Raj Joshi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency

(2013) Manuel Schiff et al.   MOLECULAR GENETICS AND METABOLISM

VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection

(2013) Akiko Yamamoto et al.   PEDIATRICS INTERNATIONAL

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening,In SilicoPredictions, and Molecular Studies

(2013) Serena Catarzi et al.   TheScientificWorldJOURNAL

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay

(2012) Seiji Yamaguchi et al.   MOLECULAR GENETICS AND METABOLISM

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Newborn screening: how are we travelling, and where should we be going?

(2011) Bridget Wilcken   JOURNAL OF INHERITED METABOLIC DISEASE

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

(2011) A. Boutron et al.   MOLECULAR GENETICS AND METABOLISM

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

(2010) J P Bonnefont et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Heat stress deteriorates mitochondrial β-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid β-oxidation disorders

(2010) Hong Li et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2

(2010) Mitsuru Endo et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

(2010) Annet M. Bosch et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

(2010) Ute Spiekerkoetter   JOURNAL OF INHERITED METABOLIC DISEASE

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

(2010) Ute Spiekerkoetter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry

(2010) Can Ficicioglu et al.   JOURNAL OF PEDIATRICS

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

(2010) Sorcha A. Collins et al.   MOLECULAR GENETICS AND METABOLISM

Effect of heat stress and bezafibrate on mitochondrial β-oxidation: Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay

(2009) Hong Li et al.   BRAIN & DEVELOPMENT

Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening

(2009) C. Ficicioglu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

(2009) U. Spiekerkoetter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

(2009) U. Spiekerkoetter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Atypical presentation of VLCAD deficiency associated with a novelACADVLsplicing mutation

(2009) Oleg Shchelochkov et al.   MUSCLE & NERVE

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

(2009) Pascal Laforêt et al.   NEUROMUSCULAR DISORDERS

Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect

(2009) Jean-Paul Bonnefont et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structural Basis for Substrate Fatty Acyl Chain Specificity

(2008) Ryan P. McAndrew et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders

(2008) F. Djouadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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) Go Tajima et al.   PEDIATRIC RESEARCH