X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2773) 2773
Publication (148) 148
Magazine Article (26) 26
Book Chapter (24) 24
Book Review (17) 17
Newsletter (16) 16
Newspaper Article (7) 7
Reference (5) 5
Dissertation (4) 4
Book / eBook (3) 3
Conference Proceeding (1) 1
Paper (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (1916) 1916
galactosemia (840) 840
female (813) 813
male (783) 783
infant, newborn (670) 670
animals (564) 564
galactosemias - diagnosis (489) 489
galactosemias (441) 441
galactose (435) 435
galactosemias - genetics (433) 433
infant (429) 429
index medicus (383) 383
child (366) 366
adult (353) 353
pediatrics (352) 352
rats (340) 340
galactosemias - complications (328) 328
galactosemias - metabolism (300) 300
galactosemias - enzymology (282) 282
galactose - metabolism (273) 273
genetics & heredity (266) 266
child, preschool (258) 258
adolescent (256) 256
endocrinology & metabolism (227) 227
galactosemias - blood (226) 226
galactose - blood (199) 199
mutation (196) 196
biochemistry & molecular biology (194) 194
utp-hexose-1-phosphate uridylyltransferase - genetics (182) 182
metabolism (159) 159
pregnancy (139) 139
enzymes (136) 136
medicine, research & experimental (134) 134
ophthalmology (124) 124
erythrocytes - enzymology (123) 123
galactosemias - physiopathology (123) 123
galactosemias - diet therapy (122) 122
diet (119) 119
heterozygote (117) 117
medicine & public health (117) 117
middle aged (117) 117
galactosemias - pathology (112) 112
cataract - etiology (111) 111
utp-hexose-1-phosphate uridylyltransferase - deficiency (110) 110
internal medicine (108) 108
metabolic diseases (107) 107
galactosemias - epidemiology (105) 105
mass screening (104) 104
research (104) 104
children (102) 102
kinetics (102) 102
time factors (96) 96
gene (95) 95
phosphates (93) 93
mutations (92) 92
galactose - administration & dosage (91) 91
neonatal screening (91) 91
oxidative stress (91) 91
utp-hexose-1-phosphate uridylyltransferase - metabolism (90) 90
analysis (89) 89
rats, sprague-dawley (88) 88
glucose (86) 86
infants (86) 86
physiological aspects (85) 85
aldehyde reductase - antagonists & inhibitors (84) 84
classical galactosemia (84) 84
galactosemias - therapy (84) 84
genotype (82) 82
diagnosis (81) 81
galactosaemia (78) 78
alleles (77) 77
genetic aspects (77) 77
rats, inbred strains (76) 76
cataract (75) 75
experimental galactosemia (74) 74
human genetics (74) 74
biochemistry, general (72) 72
classic galactosemia (72) 72
phenotype (72) 72
phenylketonuria (72) 72
methods (71) 71
erythrocytes - metabolism (70) 70
article (68) 68
diabetes mellitus, experimental - metabolism (68) 68
galactose - pharmacology (68) 68
galactose-1-phosphate (68) 68
molecular sequence data (68) 68
nucleotidyltransferases - blood (68) 68
deficiency (67) 67
galactosemias - etiology (67) 67
pedigree (67) 67
disease models, animal (65) 65
medical laboratory technology (65) 65
newborn screening (65) 65
cells, cultured (64) 64
diabetes (64) 64
mice (64) 64
blood glucose - metabolism (63) 63
carbohydrate metabolism (63) 63
diet therapy (63) 63
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2431) 2431
French (132) 132
German (64) 64
Japanese (46) 46
Polish (46) 46
Russian (36) 36
Spanish (36) 36
Hungarian (13) 13
Italian (8) 8
Czech (5) 5
Turkish (5) 5
Danish (4) 4
Dutch (4) 4
Portuguese (4) 4
Croatian (3) 3
Norwegian (3) 3
Serbian (3) 3
Swedish (3) 3
Bulgarian (1) 1
Catalan (1) 1
Chinese (1) 1
Finnish (1) 1
Korean (1) 1
Persian (1) 1
Romanian (1) 1
Slovenian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Book
PEDIATRICS, ISSN 0031-4005, 05/2019, Volume 143, Issue 5, p. e20190477
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1283 - 1285
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 04/2019, Volume 14, Issue 1, pp. 86 - 11
Journal Article
Journal of Assisted Reproduction and Genetics, ISSN 1058-0468, 1/2018, Volume 35, Issue 1, pp. 3 - 16
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 01/2018, Volume 31, Issue 1, p. 71
Journal Article
Gene, ISSN 0378-1119, 09/2016, Volume 589, Issue 2, pp. 133 - 141
Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by von Ruess. The subsequent 100 years has seen considerable progress... 
Galactokinase | Inherited metabolic disease | Leloir pathway | UDP-galactose 4′-epimerase | Galactose 1-phosphate uridylyltransferase | UDP-galactose 4 '-epimerase | N-ACETYLGALACTOSAMINE KINASE | GALT PROTEIN DATABASE | URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE | EPIMERASE-DEFICIENCY GALACTOSEMIA | TUMOR-SUPPRESSOR GENE | HUMAN GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE | DISEASE-CAUSING MUTATIONS | DROSOPHILA-MELANOGASTER MODEL | O-LINKED GLYCOSYLATION | GENETICS & HEREDITY | HUMAN GALACTOKINASE INHIBITORS | Galactose - metabolism | UTP-Hexose-1-Phosphate Uridylyltransferase - genetics | History, 21st Century | Humans | Molecular Chaperones - therapeutic use | Galactokinase - genetics | Galactosemias - genetics | UDPglucose 4-Epimerase - genetics | Protein Folding - drug effects | Galactokinase - chemistry | Gene Expression | UTP-Hexose-1-Phosphate Uridylyltransferase - chemistry | History, 20th Century | Galactosemias - history | UDPglucose 4-Epimerase - chemistry | Chromosome Mapping | Galactosemias - drug therapy | Proteasome Inhibitors - therapeutic use | Galactosemias - classification | Antioxidants - therapeutic use | Galactokinase - metabolism | Oxidative Stress - drug effects | Genome, Human | UDPglucose 4-Epimerase - metabolism | UTP-Hexose-1-Phosphate Uridylyltransferase - metabolism | Physiological aspects | Enzymes | Galactose | Analysis | Index Medicus
Journal Article