相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates
Suzan J. G. Knottnerus et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders
Colin S. McCoin et al.
PHYSIOLOGICAL REPORTS (2019)
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
Jerry Vockley et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience
Charles R. Roe et al.
MOLECULAR GENETICS AND METABOLISM (2015)
An overview of the crosstalk between inflammatory processes and metabolic dysregulation during diabetic cardiomyopathy
Xavier Palomer et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2013)
Disorders of Creatine Transport and Metabolism
Nicola Longo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2011)
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
Paul J. Isackson et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential
Charles R. Roe et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency
MJ Bennett et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency
L Thuillier et al.
HUMAN MUTATION (2003)