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Journal Article
Brain, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Journal Article
Brain, ISSN 0006-8950, 8/2007, Volume 130, Issue 8, pp. 2037 - 2044
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 218 - 226
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 6 - 18
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2017, Volume 102, Issue Suppl 2, p. A3
Crescentic glomerulonephritis (CGN) is a rare cause of glomerulonephritis in childhood. This study aims to evaluate the aetiology, demographic and... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2015, Volume 10, Issue 1, p. 148
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1130 - 1145
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a... 
VIALETTO-VAN LAERE | COFACTORS | ELECTRON-TRANSFER FLAVOPROTEIN | ESCHERICHIA-COLI | MITOCHONDRIA | DISEASE | GENETICS & HEREDITY | OVER-EXPRESSION | SYNTHETASE | FUNCTIONAL-CHARACTERIZATION | ISOFORM 2 | Mitochondrial Diseases - pathology | Electron Transport | Liver - pathology | Skin - metabolism | Humans | Infant | Male | Muscle, Skeletal - metabolism | Gene Expression Profiling | Riboflavin - pharmacology | Case-Control Studies | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - drug therapy | Young Adult | Flavin-Adenine Dinucleotide - metabolism | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics | Liver - drug effects | Muscle, Skeletal - drug effects | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - pathology | Adult | Female | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Real-Time Polymerase Chain Reaction | Frameshift Mutation - genetics | Infant, Newborn | Skin - pathology | Fibroblasts - metabolism | Mitochondrial Diseases - genetics | Mitochondrial Diseases - drug therapy | Mutagenesis, Site-Directed | Liver - metabolism | RNA, Messenger - genetics | Cells, Cultured | Fibroblasts - pathology | Reverse Transcriptase Polymerase Chain Reaction | Vitamin B Complex - pharmacology | Blotting, Western | Fibroblasts - drug effects | Nucleotidyltransferases - genetics | Protein Binding | Muscle, Skeletal - pathology | Skin - drug effects | Vitamin B2 | Oxidoreductases | Gene mutations | Health aspects | Proteins | Homeostasis | Mutation | Mass spectrometry | Vitamin B | Life Sciences
Journal Article