X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (20) 20
index medicus (17) 17
genetics & heredity (13) 13
mutation (13) 13
male (11) 11
female (10) 10
infant (9) 9
adult (8) 8
genetics (7) 7
phenotype (7) 7
biochemistry & molecular biology (6) 6
carnitine o-palmitoyltransferase - genetics (6) 6
children (6) 6
dna mutational analysis (6) 6
human genetics (6) 6
medicine, research & experimental (6) 6
amino acids (5) 5
child (5) 5
child, preschool (5) 5
diagnosis (5) 5
life sciences (5) 5
mutations (5) 5
neurosciences (5) 5
adolescent (4) 4
carnitine o-palmitoyltransferase - deficiency (4) 4
carnitine o-palmitoyltransferase - metabolism (4) 4
enzymes (4) 4
epilepsy (4) 4
expression (4) 4
fatty-acid oxidation (4) 4
gene (4) 4
genetic aspects (4) 4
humanities and social sciences (4) 4
identification (4) 4
infant, newborn (4) 4
medicine & public health (4) 4
metabolic diseases (4) 4
pediatrics (4) 4
pedigree (4) 4
amino acid sequence (3) 3
analysis (3) 3
animals (3) 3
biochemistry, general (3) 3
catalytic activity (3) 3
chromosomal localization (3) 3
clinical neurology (3) 3
endocrinology & metabolism (3) 3
event-related potentials (3) 3
fatty acids (3) 3
genetic predisposition to disease (3) 3
genotype (3) 3
internal medicine (3) 3
linguistics (3) 3
metabolism (3) 3
mitochondria (3) 3
molecular sequence data (3) 3
psychology (3) 3
sequence homology, amino acid (3) 3
urine (3) 3
visual word recognition (3) 3
activation (2) 2
amino acid metabolism, inborn errors - pathology (2) 2
amyloidosis (2) 2
blotting, western (2) 2
brain - metabolism (2) 2
brain diseases, metabolic, inborn - diagnosis (2) 2
brain diseases, metabolic, inborn - genetics (2) 2
carnitine palmitoyltransferase 2 (2) 2
cdna (2) 2
chromatography (2) 2
chromosome aberrations (2) 2
cognitive ability (2) 2
cognitive science (2) 2
cystic fibrosis (2) 2
deficiency (2) 2
deletions (2) 2
emotion (2) 2
emotional valence (2) 2
emotions (2) 2
encephalopathy (2) 2
erps (2) 2
fatty acid oxidation (2) 2
fatty acids - metabolism (2) 2
fibroblasts - metabolism (2) 2
genetic research (2) 2
heart (2) 2
human health and pathology (2) 2
hyperammonemia (2) 2
hyperechogenic bowel (2) 2
ii deficiency (2) 2
inhibition (2) 2
intellectual disability (2) 2
isoforms (2) 2
liver - enzymology (2) 2
lupus (2) 2
lysinuric protein intolerance (2) 2
malonyl-coa (2) 2
malonyl-coa sensitivity (2) 2
medical research (2) 2
medicine (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


BBA - Molecular Basis of Disease, ISSN 0925-4439, 2010, Volume 1802, Issue 5, pp. 478 - 484
Journal Article
Clinical Chemistry, ISSN 0009-9147, 04/2018, Volume 64, Issue 4, pp. 752 - 754
A complete blood count revealed mild macrocytic anemia (hemoglobin = 11.1 g/dL, RI: 12-16 g/dL; hematocrit = 32%, RI: 36.1-44.3; red blood cells = 3.21 X 106,... 
ACIDEMIA | MEDICAL LABORATORY TECHNOLOGY | Heart | Amino acids | Cardiomyopathy, Dilated | Urine | Plasma | Dilated cardiomyopathy | Metabolites | Cardiomyopathy | Anemia | Aciduria | Metabolism | Medical screening
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2017, Volume 12, Issue 1, p. 3
Journal Article
Human Pathology, ISSN 0046-8177, 2017, Volume 62, pp. 160 - 169
Journal Article
Journal Article
by Mignot, Cyril and McMahon, Aoife C and Bar, Claire and Campeau, Philippe M and Davidson, Claire and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana G and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth J and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Geneviève, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan M and Hagebeuk, Eveline and Hamdan, Fadi F and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sana and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphné and Marjanovic, gan and Métreau, Julia and Michaud, Jacques L and Miller, Kathryn and Minassian, Berge A and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma R and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Auey and Quelin, Chloé and Rosen, Alyssa R and Roume, Joelle and Rossignol, Elsa and Simon, Marleen E H and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel P and van der Smagt, Jasper J and van Hasselt, Peter M and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke S and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 837 - 849
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 129 - 139
...-Baptiste Arnoux 2 & Magalie Barth 3 & Delphine Lamireau 4 & Nada Houcinat 4 & Cyril Goizet 4 & Bérénice Doray 5 & Stéphanie Gobin 6 & Manuel Schiff 7 & Aline Cano 8... 
Human Genetics | Biochemistry, general | Pediatrics | Medicine & Public Health | Metabolic Diseases | Internal Medicine | Primary and secondary diagnoses | Neurotransmitter disorders | MEDICINE, RESEARCH & EXPERIMENTAL | RNA | AICARDI-GOUTIERES SYNDROME | ACID DECARBOXYLASE DEFICIENCY | INBORN-ERRORS | ENCEPHALOPATHY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | COMPONENT | PATIENT | MUTATIONS | CYSTIC LEUKOENCEPHALOPATHY | Predictive Value of Tests | Genetic Predisposition to Disease | Prognosis | Brain Diseases, Metabolic, Inborn - cerebrospinal fluid | Humans | Gene Expression Profiling | Genetic Markers | Brain Diseases, Metabolic, Inborn - diagnosis | Phenotype | DNA Mutational Analysis | Biogenic Monoamines - cerebrospinal fluid | Registries | Brain Diseases, Metabolic, Inborn - therapy | Retrospective Studies | Biomarkers - cerebrospinal fluid | Mutation | Brain Diseases, Metabolic, Inborn - genetics | Genetic research | Nervous system diseases | Diagnosis | Folic acid | Amino acids | Methylenetetrahydrofolate reductase | Cerebrospinal fluid | Metabolism | Neurological diseases | Foxg1 protein | Mitochondria | Ran-binding protein | Dopamine transporter | Potassium channels (voltage-gated) | Chromosome aberrations | KCNQ2 protein | Life Sciences | Human health and pathology | Neurons and Cognition
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2010, Volume 18, Issue 10, pp. 1166 - 1169
Grade III fetal bowel hyperechogenicity and/or loop dilatation observed at the second trimester of pregnancy can be due to several disease conditions,... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2010, Volume 18, Issue 10, pp. 1166 - 1169
Journal Article
Current Psychology Letters: Behaviour, Brain and Cognition, ISSN 1379-6100, 2010, Volume 26, Issue 1, pp. 1 - 11
Journal Article
NeuroReport, ISSN 0959-4965, 09/2012, Volume 23, Issue 13, pp. 762 - 767
Event-related potentials were used to explore the underlying mechanisms of masked orthographic priming and to determine whether the emotional valence of a word... 
orthographic priming | emotion | event-related potentials | ERP | ACTIVATION | INHIBITION | VISUAL WORD RECOGNITION | TIME-COURSE | NEUROSCIENCES | NEIGHBORS | Emotions - physiology | Reading | Analysis of Variance | Humans | Evoked Potentials - physiology | Reaction Time | Visual Perception | Decision Making - physiology | Event-related potentials | Language | Decision making | Emotions
Journal Article
2013, A découvert, ISBN 9782271078964
Vingt ans après la première conférence de Rio, qu'est devenue la proposition de conduire nos sociétés vers un développement durable ? Adopté par les uns,... 
Sociology | Humanities and Social Sciences | écologie humaine | conservation des ressources naturelles | développement durable | santé | politique environnementale | environnement | restauration de l'environnement
Book
Biochemical Journal, ISSN 0264-6021, 04/2005, Volume 387, Issue 1, pp. 67 - 76
We have previously proposed that changes in malonyl-CoA sensitivity of rat L-CPT1 (liver carnitine palmitoyltransferase 1) might occur through modulation of... 
Carnitine acyltransferase | Mitochondria | Carnitine palmitoyltransterase | Malonyl-CoA | Cross-linking | Intramolecular interaction | intramolecular interaction | CONTACT SITES | MITOCHONDRIAL OUTER-MEMBRANE | mitochondria | BIOCHEMISTRY & MOLECULAR BIOLOGY | IDENTIFICATION | carnitine acyltransferase | KETOGENESIS | TRANSPORT | carnitine palmitoyltransferase | INHIBITION | cross-linking | FATTY-ACID OXIDATION | malonyl-CoA | PROTEINS | EXPRESSION | ACETYLTRANSFERASE | Carnitine O-Palmitoyltransferase - genetics | Liver - enzymology | Rats, Wistar | Diabetes Mellitus, Experimental - enzymology | Mitochondria, Liver - metabolism | Saccharomyces cerevisiae - genetics | Streptozocin | Cross-Linking Reagents - pharmacology | Peptides - genetics | Male | Starvation - metabolism | Cytosol - enzymology | Point Mutation - genetics | Malonyl Coenzyme A - metabolism | Peptides - metabolism | Transfection - methods | Carnitine O-Palmitoyltransferase - metabolism | Diabetes Mellitus, Experimental - chemically induced | Diabetes Mellitus, Experimental - metabolism | Carnitine O-Palmitoyltransferase - biosynthesis | Protein Structure, Tertiary | Benzyl Alcohol - pharmacology | Starvation - enzymology | Rats | Mitochondria, Liver - enzymology | Membrane Fluidity - drug effects | Cross-Linking Reagents - metabolism | Animals | Substrate Specificity - drug effects | Diet | Saccharomyces cerevisiae - enzymology | muscle) carnitine palmitoyltransferase 1 | BS3, bis(sulphosuccinimidyl) suberate | E3A etc., Glu3→Ala etc | GMBS, N-(γ-maleimidobutyloxy)-succinimide ester | TM, transmembrane | M-)CPT1, (liver | sulpho-GMBS, N-(γ-maleimidobutyloxy)-sulphosuccinimide ester | f82, 82-kDa fragment | OMM, mitochondrial outer membrane | MBS, 3-maleimidobenzoyl-N-hydroxysuccinimide ester | sulpho-KMUS, N-(κ-maleimidoundecanoyloxy)-sulphosuccinimide ester | EDC, 1-ethyl-3-(3-dimethylaminopropyl)carbodi-imide | LC-SMCC, succinimidyl 4-(N-maleimidomethyl)cyclohexane-1-carboxy-(6-amidocaproate) | N–C interaction, N- and C-terminal domain interaction | sulpho-MBS, 3-maleimidobenzoyl-N-hydroxysulphosuccinimide ester
Journal Article