标题
Clinical manifestations and management of fatty acid oxidation disorders
作者
关键词
-
出版物
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-07-11
DOI
10.1007/s11154-020-09568-3
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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