Associated Papers
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Hesse J et al.
Journal of Inherited Metabolic Disease, 2018
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen N et al.
Orphanet Journal of Rare Diseases, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
Jinjun C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
Chin EL et al.
Bmc Genetics, 2013
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Hoffmann L et al.
Journal of Inherited Metabolic Disease, 2012
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
Bastin J et al.
Human Molecular Genetics, 2011
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.
Djouadi F et al.
Journal of Inherited Metabolic Disease, 2008
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.
Aliefendioğlu D et al.
European Journal of Pediatrics, 2007
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
Gregersen N et al.
European Journal of Biochemistry, 2004
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS et al.
American Journal of Human Genetics, 1999
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