标题
Lipid Myopathies
作者
关键词
-
出版物
Journal of Clinical Medicine
Volume 7, Issue 12, Pages 472
出版商
MDPI AG
发表日期
2018-11-23
DOI
10.3390/jcm7120472
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。- Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- (2018) Birgit M. Repp et al. Orphanet Journal of Rare Diseases
- Low expression of IL-18 and IL-18 receptor in human skeletal muscle is associated with systemic and intramuscular lipid metabolism—Role of HIV lipodystrophy
- (2018) Birgitte Lindegaard et al. PLoS One
- Muscle MRI in neutral lipid storage disease (NLSD)
- (2017) Matteo Garibaldi et al. JOURNAL OF NEUROLOGY
- Bortezomib-Induced Muscle Toxicity in Multiple Myeloma
- (2017) Valeria Guglielmi et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity
- (2017) Go Tajima et al. MOLECULAR GENETICS AND METABOLISM
- Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome
- (2017) Seena Vengalil et al. NEUROMUSCULAR DISORDERS
- Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
- (2017) Elena Maria Pennisi et al. Orphanet Journal of Rare Diseases
- 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
- Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation
- (2016) Go Tajima et al. MOLECULAR GENETICS AND METABOLISM
- Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease
- (2016) A. Béhin et al. REVUE NEUROLOGIQUE
- Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase
- (2015) Masahiro Higashi et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- A myopathy with unusual features caused byPNPLA2gene mutations
- (2015) Elena M. Pennisi et al. MUSCLE & NERVE
- A novel therapeutic approach forLPIN1mutation-associated rhabdomyolysis-The Austrian experience
- (2015) Karin Pichler et al. MUSCLE & NERVE
- Inborn errors of cytoplasmic triglyceride metabolism
- (2014) Jiang Wei Wu 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
- Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts
- (2013) Caroline Michot et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Effects of Bezafibrate Treatment in a Patient and a Carrier With Mutations in the PNPLA2 Gene, Causing Neutral Lipid Storage Disease With Myopathy
- (2013) Tineke van de Weijer et al. CIRCULATION RESEARCH
- Muscle MRI in patients with long-chain fatty acid oxidation disorders
- (2013) Eugene F. Diekman 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
- Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
- (2012) Tobias B. Haack et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Fatal Rhabdomyolysis in 2 Children with LPIN1 Mutations
- (2012) Jean Bergounioux et al. JOURNAL OF PEDIATRICS
- MCAD deficiency in Denmark
- (2012) Brage Storstein Andresen et al. MOLECULAR GENETICS AND METABOLISM
- Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study
- (2012) Pascal Laforêt et al. MOLECULAR GENETICS AND METABOLISM
- Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy
- (2012) Allison M Keeler et al. MOLECULAR THERAPY
- Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency
- (2012) Pushpa Raj Joshi et al. WIENER KLINISCHE WOCHENSCHRIFT
- Impaired Insulin/IGF Signaling in Experimental Alcohol-Related Myopathy
- (2012) Van Anh Nguyen et al. Nutrients
- Genotype-phenotype correlation in primary carnitine deficiency
- (2011) Emily C. Rose et al. HUMAN MUTATION
- ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1
- (2011) Guenter Haemmerle et al. NATURE MEDICINE
- Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
- (2010) Mike Gerards et al. BRAIN
- Lipid Storage Myopathy
- (2010) Wen-Chen Liang et al. Current Neurology and Neuroscience Reports
- Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
- (2010) Gladys Ho et al. HUMAN MUTATION
- 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
- Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
- (2010) Tobias B Haack et al. NATURE GENETICS
- Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges
- (2010) Pascal Laforêt et al. NEUROMUSCULAR DISORDERS
- Lipolysis – A highly regulated multi-enzyme complex mediates the catabolism of cellular fat stores
- (2010) Achim Lass et al. PROGRESS IN LIPID RESEARCH
- Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population
- (2010) Stefan Coassin et al. PLoS Genetics
- 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
- Acyl-CoA Dehydrogenases: Dynamic History of Protein Family Evolution
- (2009) Zuzana Swigoňová et al. JOURNAL OF MOLECULAR EVOLUTION
- Clinical and genetic analysis of lipid storage myopathies
- (2009) Aya Ohkuma 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
- Characterization of mitochondrial trifunctional protein and its inactivation study for medicine development
- (2008) Xiaojun Liu et al. BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
- Lipid storage myopathies
- (2008) Claudio Bruno et al. CURRENT OPINION IN NEUROLOGY
- The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
- (2008) Christina B. Pedersen et al. HUMAN GENETICS
- Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA Dehydrogenation Deficiency
- (2008) Bárbara J. Henriques 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
- Triglyceride Deposit Cardiomyovasculopathy
- (2008) Ken-ichi Hirano et al. NEW ENGLAND JOURNAL OF MEDICINE
- Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II
- (2007) Brad Angle et al. MOLECULAR GENETICS AND METABOLISM
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