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index medicus (32) 32
humans (31) 31
female (20) 20
male (17) 17
infant (14) 14
pediatrics (13) 13
3-hydroxyacyl coa dehydrogenases - deficiency (12) 12
child, preschool (12) 12
mutation (12) 12
adult (11) 11
infant, newborn (11) 11
child (9) 9
mitochondria (9) 9
mitochondrial trifunctional protein (9) 9
adolescent (8) 8
cardiomyopathy (8) 8
long-chain-3-hydroxyacyl-coa dehydrogenase (8) 8
3-hydroxyacyl coa dehydrogenases - genetics (7) 7
abridged index medicus (7) 7
diagnosis (7) 7
pregnancy (7) 7
fatty acids (6) 6
genetic aspects (6) 6
immunohistochemistry (6) 6
middle aged (6) 6
ophthalmology (6) 6
young adult (6) 6
acid beta-oxidation (5) 5
aged (5) 5
alpha-subunit (5) 5
cells, cultured (5) 5
children (5) 5
disorders (5) 5
fatty acid oxidation (5) 5
fatty acids - metabolism (5) 5
finland - epidemiology (5) 5
g1528c mutation (5) 5
genetics & heredity (5) 5
lipid metabolism, inborn errors - genetics (5) 5
point mutation (5) 5
retrospective studies (5) 5
trifunctional protein-deficiency (5) 5
3-hydroxydicarboxylic aciduria (4) 4
blotting, western (4) 4
cells (4) 4
clinical neurology (4) 4
defects (4) 4
deficiency (4) 4
disease (4) 4
dna mutational analysis (4) 4
fatal outcome (4) 4
follow-up studies (4) 4
heart diseases (4) 4
oxidation-reduction (4) 4
phenotype (4) 4
proteins (4) 4
retinal diseases - enzymology (4) 4
transport (4) 4
age of onset (3) 3
analysis (3) 3
atrophy (3) 3
base sequence (3) 3
carnitine (3) 3
carnitine o-palmitoyltransferase - deficiency (3) 3
coenzyme-a dehydrogenase (3) 3
enzyme (3) 3
enzymes (3) 3
fatty acid desaturases - deficiency (3) 3
fatty-acid oxidation (3) 3
fibroblasts - metabolism (3) 3
genetic association studies (3) 3
genetics (3) 3
heart (3) 3
heart failure (3) 3
lipid metabolism (3) 3
lipid metabolism, inborn errors - diagnosis (3) 3
lipid metabolism, inborn errors - diet therapy (3) 3
mass spectrometry (3) 3
mitochondria - enzymology (3) 3
mitochondria - metabolism (3) 3
mitochondrial trifunctional protein - deficiency (3) 3
muscle, skeletal - pathology (3) 3
neurology (3) 3
neurosciences (3) 3
patient (3) 3
pregnant women (3) 3
rat-liver mitochondria (3) 3
abnormalities, multiple - genetics (2) 2
acute fatty liver (2) 2
acyl-coa (2) 2
acyl-coa dehydrogenase (2) 2
acyl-coa dehydrogenase, long-chain - metabolism (2) 2
age (2) 2
aged, 80 and over (2) 2
animals (2) 2
beta-oxidation (2) 2
biomarkers (2) 2
biomarkers - metabolism (2) 2
biopsy (2) 2
brain (2) 2
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The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 635 - 642
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 11/2018, Volume 72, Issue 19, pp. 2324 - 2338
Journal Article
Lancet Neurology, ISSN 1474-4422, 2011, Volume 10, Issue 9, pp. 806 - 818
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2016, Volume 170, Issue 6, pp. 1433 - 1438
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 | Index Medicus | Life Sciences
Journal Article
Acta Paediatrica, ISSN 0803-5253, 05/2016, Volume 105, Issue 5, pp. 549 - 554
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 01/2019, Volume 23, Issue 1, pp. 228 - 228
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 20, Issue 1, pp. 38 - 44
Abstract Background The neonatal screening and early start of the dietary therapy have improved the outcome of long-chain 3-hydroxyacyl-CoA dehydrogenase... 
Pediatrics | Neurology | Fatty acid oxidation disorders | Inborn errors of metabolism | Mitochondrial fatty acid β-oxidation | Polyneuropathy | DEFECTS | MITOCHONDRIAL TRIFUNCTIONAL PROTEIN | FATTY-ACID OXIDATION | CLINICAL PRESENTATION | Mitochondrial fatty acid beta-oxidation | OPTIMAL DIETARY THERAPY | PIGMENTARY RETINOPATHY | PEDIATRICS | CLINICAL NEUROLOGY | Peripheral Nervous System Diseases - diagnosis | Lipid Metabolism, Inborn Errors - diet therapy | Lipid Metabolism, Inborn Errors - genetics | Age Factors | Follow-Up Studies | Humans | Middle Aged | Child, Preschool | Male | Peripheral Nervous System Diseases - physiopathology | Neonatal Screening | Nervous System Diseases - genetics | Young Adult | Cardiomyopathies - genetics | Electrodiagnosis | Rhabdomyolysis - diet therapy | Adult | Female | Electromyography | Diet Therapy | Child | Infant, Newborn | Mitochondrial Trifunctional Protein - genetics | Peripheral Nervous System Diseases - etiology | Cardiomyopathies - diet therapy | Nervous System Diseases - diet therapy | Mutation - genetics | Mitochondrial Myopathies - diet therapy | Disease Progression | Mitochondrial Myopathies - genetics | Rhabdomyolysis - genetics | Adolescent | Age of Onset | Patient Compliance | Mitochondrial Trifunctional Protein - deficiency | Medicine, Experimental | Medical research | Metabolites | Fatty acids | Medical imaging equipment | Neurophysiology | Index Medicus
Journal Article
Journal Article