Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases

L-Carnitine and Acylcarnitines: Mitochondrial Biomarkers for Precision Medicine

(2021) Marc R. McCann et al.   Metabolites

The Genetics of Sudden Infant Death Syndrome—Towards a Gene Reference Resource

(2021) Emma B. Johannsen et al.   Genes

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

(2020) Suzan J.G. Knottnerus et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Clinical manifestations and management of fatty acid oxidation disorders

(2020) J. Lawrence Merritt et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Long-Chain Acylcarnitines and Cardiac Excitation-Contraction Coupling: Links to Arrhythmias

(2020) Hamish M. Aitken-Buck et al.   Frontiers in Physiology

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience

(2020) A. Maguolo et al.   Molecular Genetics and Metabolism Reports

False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight

(2020) Ryosuke Bo et al.   Molecular Genetics and Metabolism Reports

Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report

(2020) Yiming Zheng et al.   BMC Neurology

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies

(2020) Michelle Mereis et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening

(2019) Sara Tucci et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

(2019) Sacha Ferdinandusse et al.   HUMAN MUTATION

Increased risk of sudden death in untreated Primary Carnitine Deficiency

(2019) Jan Rasmussen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Carnitine Inborn Errors of Metabolism

(2019) Mohammed Almannai et al.   MOLECULES

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

(2019) Hannah Fraser et al.   Orphanet Journal of Rare Diseases

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

(2018) Jana Lisyová et al.   BMC Medical Genetics

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

(2018) Eungu Kang et al.   BMC Pediatrics

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry

(2018) Lawrence Fisher et al.   CLINICAL BIOCHEMISTRY

Mitochondrial β-oxidation of saturated fatty acids in humans

(2018) María M. Adeva-Andany et al.   MITOCHONDRION

Inborn Errors of Metabolism with Myopathy

(2018) Areeg El-Gharbawy et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

(2018) Suzan J. G. Knottnerus et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)

(2018) Julia Hesse et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2018) Kenji Yamada et al.   JOURNAL OF HUMAN GENETICS

Significance of l -carnitine for human health

(2017) María M. Adeva-Andany et al.   IUBMB LIFE

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms

(2017) Zahra Nochi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Study of Carnitine/Acylcarnitine and Amino Acid Profile in Children and Adults With Acute Liver Failure

(2017) Vikrant Sood et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases

(2016) Kenji Yamada et al.   BRAIN & DEVELOPMENT

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

(2016) Lindsay C. Burrage et al.   JOURNAL OF PEDIATRICS

Inborn Errors of Metabolism (Metabolic Disorders)

(2016) G. M. Rice et al.   PEDIATRICS IN REVIEW

Diagnostic pitfall in antenatal manifestations of CPT II deficiency

(2015) F. Boemer et al.   CLINICAL GENETICS

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

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

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

(2015) Manuel Schiff et al.   HUMAN MOLECULAR GENETICS

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

(2015) Heidi Peters et al.   MOLECULAR GENETICS AND METABOLISM

Acylcarnitines—old actors auditioning for new roles in metabolic physiology

(2015) Colin S. McCoin et al.   Nature Reviews Endocrinology

Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum

(2015) Bing Wen et al.   NEUROLOGICAL SCIENCES

Clinical and biochemical characterization of four patients with mutations in ECHS1

(2015) Sacha Ferdinandusse et al.   Orphanet Journal of Rare Diseases

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

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

(2014) Heidi Peters et al.   BRAIN

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

(2014) Sowmiya Moorthie et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice

(2014) Wei Wang et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: Performance improvement by monitoring a new ratio

(2014) Patricia L. Hall et al.   MOLECULAR GENETICS AND METABOLISM

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

(2013) Jessica Nouws et al.   HUMAN MOLECULAR GENETICS

Differences between acylcarnitine profiles in plasma and bloodspots

(2013) Monique G.M. de Sain-van der Velden et al.   MOLECULAR GENETICS AND METABOLISM

Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

(2012) Marga Sturm et al.   PLoS One

High Prevalence of Short-Chain Acyl-CoA Dehydrogenase Deficiency in the Netherlands, but No Association with Epilepsy of Unknown Origin in Childhood

(2011) B. T. van Maldegem et al.   NEUROPEDIATRICS

Pathophysiology of fatty acid oxidation disorders

(2010) M. J. Bennett   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

(2010) Martin Lindner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Stability of Acylcarnitines and Free Carnitine in Dried Blood Samples: Implications for Retrospective Diagnosis of Inborn Errors of Metabolism and Neonatal Screening for Carnitine Transporter Deficiency

(2009) Ralph Fingerhut et al.   ANALYTICAL CHEMISTRY

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

(2009) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM

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

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and cardiogenic shock

(2008) Efrén Martínez-Quintana et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY