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index medicus (87) 87
humans (80) 80
male (49) 49
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life sciences (44) 44
genetics & heredity (39) 39
phenylketonuria (35) 35
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hyperphenylalaninemia (19) 19
medicine, research & experimental (19) 19
mutation (19) 19
infant, newborn (18) 18
phenylalanine - blood (18) 18
tetrahydrobiopterin (18) 18
[ sdv ] life sciences [q-bio] (17) 17
animals (17) 17
physiological aspects (17) 17
pku (16) 16
medicine (15) 15
biopterin - analogs & derivatives (14) 14
diet (14) 14
management (14) 14
young adult (14) 14
[sdv]life sciences [q-bio] (13) 13
genetics (13) 13
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lipids (13) 13
phenylketonurias - blood (13) 13
care and treatment (12) 12
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mutations (12) 12
oxidative stress (12) 12
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analysis (11) 11
biochemistry & molecular biology (11) 11
biopterin - therapeutic use (11) 11
deficiency (11) 11
europe (11) 11
mitochondria (11) 11
pregnancy (11) 11
sapropterin (11) 11
sapropterin dihydrochloride (11) 11
genetic aspects (10) 10
medicine & public health (10) 10
phenotype (10) 10
phenylalanine-hydroxylase deficiency (10) 10
phenylketonurias - diagnosis (10) 10
phenylketonurias - drug therapy (10) 10
retrospective studies (10) 10
treatment outcome (10) 10
biochemistry, general (9) 9
dietary supplements (9) 9
enzymes (9) 9
infants (9) 9
liver (9) 9
maternal phenylketonuria (9) 9
nutrition & dietetics (9) 9
abridged index medicus (8) 8
clinical neurology (8) 8
genes (8) 8
human genetics (8) 8
human health and pathology (8) 8
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adolescents (7) 7
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bh4 (7) 7
france (7) 7
gene (7) 7
gene expression (7) 7
genetic disorders (7) 7
health aspects (7) 7
insulin (7) 7
obesity (7) 7
patients (7) 7
phenylketonurias - diet therapy (7) 7
phenylketonurias - epidemiology (7) 7
phenylketonurias - therapy (7) 7
rodents (7) 7
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610 medicine & health (6) 6
adults (6) 6
blood phenylalanine (6) 6
expression (6) 6
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france - epidemiology (6) 6
glucose (6) 6
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Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2015, Volume 10, Issue 1, p. 158
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2018, Volume 13, Issue 1, pp. 173 - 9
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2015, Volume 373, Issue 11, pp. 1010 - 1020
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 09/2017, Volume 32, Issue 9, pp. 1893 - 1899
Journal Article
Pediatrics, ISSN 0031-4005, 2013, Volume 131, Issue 6, pp. e1881 - e1888
Journal Article
Journal Article