Clinical manifestations and management of fatty acid oxidation disorders

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

(2019) Patrícia Janeiro et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

(2019) Jeannette C. Bleeker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long‐chain fatty acid oxidation disorders

(2019) Melanie B. Gillingham et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2018) Eungu Kang et al.   BMC Pediatrics

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

Psychosocial issues in pediatric non-alcoholic fatty liver disease

(2018) Karaivazoglou Katerina et al.   PSYCHOSOMATICS

Short- and medium-chain fatty acids in energy metabolism: the cellular perspective

(2016) Peter Schönfeld et al.   JOURNAL OF LIPID RESEARCH

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

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

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

(2016) Shabnaz Siddiq et al.   Orphanet Journal of Rare Diseases

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

(2016) E. F. Diekman et al.   PLoS One

Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies

(2015) M. Wajner et al.   BIOSCIENCE REPORTS

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

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

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

(2014) J. Lawrence Merritt et al.   MOLECULAR GENETICS AND METABOLISM

Ketone body metabolism and cardiovascular disease

(2013) David G. Cotter et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening

(2013) Susan E. Waisbren et al.   Developmental Disabilities Research Reviews

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

(2012) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

(2012) Autumn L. Fletcher et al.   MOLECULAR GENETICS AND METABOLISM

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

(2012) Natalie M. Gallant et al.   MOLECULAR GENETICS AND METABOLISM

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary

(2011) et al.   CIRCULATION

Visual Impairment and Quality of Life Among Older Adults: An Examination of Explanations for the Relationship

(2011) R. L. Brown et al.   JOURNALS OF GERONTOLOGY SERIES B-PSYCHOLOGICAL SCIENCES AND SOCIAL SCIENCES

Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation

(2011) Annie M. Behrend et al.   MOLECULAR GENETICS AND METABOLISM

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

(2010) Sander Michel Houten et al.   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

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

(2010) Ronald J. A. Wanders 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

Tolerance to fast: rational and practical evaluation in children with hypoketonaemia

(2009) J. H. Walter   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

Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy

(2008) C. R. Roe et al.   NEUROLOGY

Reye Syndrome and Reye-Like Syndrome

(2008) Jayaprakash A. Gosalakkal et al.   PEDIATRIC NEUROLOGY