X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (53) 53
index medicus (53) 53
animals (37) 37
female (29) 29
male (27) 27
metabolism (25) 25
pediatrics (19) 19
biochemistry & molecular biology (17) 17
mice (17) 17
analysis (15) 15
genetics & heredity (15) 15
medicine & public health (15) 15
medicine, research & experimental (15) 15
endocrinology & metabolism (14) 14
infant, newborn (14) 14
deficiency (13) 13
diagnosis (13) 13
mass spectrometry (13) 13
metabolites (13) 13
research (13) 13
infant (12) 12
coa dehydrogenase-deficiency (11) 11
internal medicine (11) 11
metabolic diseases (11) 11
physiological aspects (11) 11
adult (10) 10
cells, cultured (10) 10
glutarates - metabolism (10) 10
multidisciplinary sciences (10) 10
neurosciences (10) 10
acidemia type-i (9) 9
biochemistry, general (9) 9
brain (9) 9
human genetics (9) 9
liver (9) 9
brain - metabolism (8) 8
child, preschool (8) 8
children (8) 8
genetic aspects (8) 8
glutaryl-coa dehydrogenase - deficiency (8) 8
neonatal screening - methods (8) 8
newborn screening (8) 8
phenotype (8) 8
phenylalanine (8) 8
tandem mass-spectrometry (8) 8
amino acid metabolism, inborn errors - metabolism (7) 7
amino acids (7) 7
apoptosis (7) 7
cancer (7) 7
carnitine - analogs & derivatives (7) 7
cattle (7) 7
cell biology (7) 7
child (7) 7
disease models, animal (7) 7
further section (7) 7
health aspects (7) 7
mice, knockout (7) 7
mitochondria - metabolism (7) 7
mutation (7) 7
biochemistry (6) 6
brain diseases, metabolic - metabolism (6) 6
calcium - metabolism (6) 6
care and treatment (6) 6
clinical neurology (6) 6
disease (6) 6
fatty acids (6) 6
glutamate (6) 6
inborn-errors (6) 6
infants (6) 6
isocitrate dehydrogenase - genetics (6) 6
liquid chromatography (6) 6
liver - metabolism (6) 6
metabolic disorders (6) 6
oxidative stress (6) 6
plasma (6) 6
risk factors (6) 6
urine (6) 6
adolescent (5) 5
amino acid metabolism, inborn errors - diagnosis (5) 5
biology and life sciences (5) 5
biomarkers (5) 5
biophysics (5) 5
blood-brain-barrier (5) 5
cholesterol (5) 5
dose-response relationship, drug (5) 5
fatty acids - metabolism (5) 5
gene expression (5) 5
glioma - genetics (5) 5
glucose (5) 5
kinetics (5) 5
lipids (5) 5
mass spectroscopy (5) 5
medical screening (5) 5
mice, inbred c57bl (5) 5
middle aged (5) 5
mitochondria - enzymology (5) 5
mutations (5) 5
neurodegeneration (5) 5
neurons - metabolism (5) 5
organic acidurias (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 10
Since modern foods are unnaturally enriched in single metabolites, it is important to understand which metabolites are sensed by the human body and which are... 
CANCER RISK | PLASMA | FRUCTOSE | CHOLESTEROL | INGESTION | GLUCOSE | MULTIDISCIPLINARY SCIENCES | DISEASE | ABSORPTION | Cell culture | Cytology | Health risks | Dietary intake | Epidemiology | Fatty acids | Ingestion | Mitochondria | Diet | Metabolites | Morphology | Oxidation | Stearic acid | Cardiovascular diseases | Cancer
Journal Article
Klinische Pädiatrie, ISSN 0300-8630, 03/2017, Volume 229, Issue 2, pp. 59 - 66
Zusammenfassung Hintergrund Zur Einführung des Neugeborenenscreening auf Mukoviszidose (CF) in Deutschland hat der Gemeinsame Bundesausschuss (G-BA) ein neues... 
Originalarbeit | genetic screening | immunoreactive trypsinogen (IRT) | newborn screening | pankreatitis associated protein (PAP) | cystic fibrosis
Journal Article
Obesity Research & Clinical Practice, ISSN 1871-403X, 05/2019, Volume 13, Issue 3, pp. 254 - 254
Journal Article
World Journal of Pediatrics, ISSN 1708-8569, 10/2018, Volume 14, Issue 5, pp. 470 - 481
Newborn screening (NBS) in Germany currently includes 15 target disorders. Recent diagnostic improvements suggest an extension of the screening panel.Since... 
Second-tier | Pediatrics | Medicine & Public Health | Surgery | Intensive / Critical Care Medicine | Newborn screening | Maternal and Child Health | Imaging / Radiology | Pediatric Surgery | Metabolic disorders | Vitamin B 12 deficiency | deficiency | Vitamin B
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2017, Volume 12, Issue 1, p. e0170742
Journal Article
Nature Medicine, ISSN 1078-8956, 07/2013, Volume 19, Issue 7, pp. 901 - 908
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2017, Volume 12, Issue 9, p. e0184897
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2018, Volume 125, Issue 1-2, pp. 86 - 95
Residual phenylalanine hydroxylase (PAH) activity is the main determinant of the metabolic phenotype in phenylketonuria (PKU). The genotypic heterogeneity of... 
MOLECULAR CHARACTERIZATION | MEDICINE, RESEARCH & EXPERIMENTAL | WILD-TYPE | MUTANT | DIAGNOSIS | KINETIC VARIANT FORM | MISSENSE MUTATIONS | DEFICIENCY | HYPERPHENYLALANINEMIA | GENE | PAH | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Medical colleges | Phenylketonuria | Genetic aspects | Hydroxylases | Phenylalanine | Questions and answers
Journal Article
PLOS ONE, ISSN 1932-6203, 02/2019, Volume 14, Issue 2, p. e0212458
Background and aims Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They... 
ADENYLOSUCCINATE LYASE DEFICIENCY | LABELED INTERNAL STANDARDS | METABOLISM | MULTIDISCIPLINARY SCIENCES | UPDATE | TANDEM MASS-SPECTROMETRY | OROTIC ACIDURIA | HPLC | INBORN-ERRORS | ELECTROSPRAY-IONIZATION | CHILDREN | Urine | Usage | Diagnosis | Research | Biological markers | Assaying apparatus | Kidney stones | Alkaloids | Pyrimidines | Liquid chromatography
Journal Article
Journal Article