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Human Mutation, ISSN 1059-7794, 03/2015, Volume 36, Issue 3, pp. 357 - 368
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 1/2019, Volume 266, Issue 1, pp. 92 - 101
Journal Article
European Journal of Medicinal Chemistry, ISSN 0223-5234, 01/2017, Volume 126, p. 160
This report is about the identification, synthesis and initial biological characterization of derivatives of 4-epi-isofagomine as pharmacological chaperones... 
Genetic research | Genetic aspects | Gangliosides | Cells | Physiological aspects
Journal Article
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 10/2017, Volume 32, Issue 5, pp. 1529 - 1536
Journal Article
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 2016, Volume 5, Issue 10, p. e380
Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of the α-galactosidase A (α-Gal A) enzyme, which is encoded by the gene.... 
Fabry disease | antisense therapy | exon skipping | minigene | U1 SNRNA | MEDICINE, RESEARCH & EXPERIMENTAL | SUBSTRATE REDUCTION | ANDERSON-FABRY-DISEASE | LYSOSOMAL STORAGE | ALPHA-GALACTOSIDASE-A | EXON | DUCHENNE MUSCULAR-DYSTROPHY | GENE-THERAPY | ENZYME REPLACEMENT THERAPY | PHARMACOLOGICAL CHAPERONE | Enzymes | Mutation | Ribonucleic acid--RNA | Molecular biology | Genes | Original
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 2011, Volume 1812, Issue 7, pp. 782 - 790
Journal Article
The Scientific World Journal, ISSN 1537-744X, 2013, Volume 2013, pp. 625824 - 625824
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during... 
OXIDATION | TRANSITION | DIAGNOSIS | PROTEIN | GENOTYPE | MULTIDISCIPLINARY SCIENCES | MITOCHONDRIA | IDENTIFICATION | PREVALENT MUTATION | NUCLEOTIDE-SEQUENCE | DEHYDROGENASE MCAD DEFICIENCY | Acyl-CoA Dehydrogenase - genetics | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Lipid Metabolism, Inborn Errors - genetics | Risk Assessment | Genetic Testing - statistics & numerical data | Humans | Lipid Metabolism, Inborn Errors - diagnosis | Proportional Hazards Models | Male | Neonatal Screening - methods | Incidence | Acyl-CoA Dehydrogenase - deficiency | Sensitivity and Specificity | Lipid Metabolism, Inborn Errors - epidemiology | Polymorphism, Single Nucleotide - genetics | Female | Italy - epidemiology | Genetic Predisposition to Disease - epidemiology | Infant, Newborn | Infants (Newborn) | Diagnosis | Medical screening | Fatty acids | Health aspects | Methods | Diseases | Neonates | Dehydrogenases | Chains | Infants | Phylogeny | Dehydrogenase | Acyl-CoA dehydrogenase | Proteins | Missense mutation | Metabolites | Genetics | Oxidation | Bioinformatics | Deoxyribonucleic acid--DNA | Seizures | Enzymes | Mass spectroscopy | Liquid chromatography | Metabolism | Patients | Molecular chains | Genetic variance | Screening | Alleles | Lethargy | Brain damage | Scientific imaging | Mutation | Mass spectrometry | Brain injury | Binding sites | Structure-function relationships | Index Medicus
Journal Article