X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (6769) 6769
Publication (502) 502
Book / eBook (341) 341
Book Review (56) 56
Book Chapter (52) 52
Newsletter (51) 51
Conference Proceeding (9) 9
Magazine Article (6) 6
Reference (2) 2
Dissertation (1) 1
Journal / eJournal (1) 1
Newspaper Article (1) 1
Streaming Video (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (5969) 5969
female (2599) 2599
male (2598) 2598
animals (1654) 1654
infant (1169) 1169
index medicus (1143) 1143
genetics & heredity (1114) 1114
adult (1102) 1102
child (1075) 1075
liver - enzymology (973) 973
child, preschool (970) 970
metabolism, inborn errors - enzymology (956) 956
mutation (925) 925
infant, newborn (891) 891
metabolism (796) 796
pediatrics (777) 777
biochemistry & molecular biology (734) 734
endocrinology & metabolism (733) 733
fibroblasts - enzymology (710) 710
enzymes (707) 707
metabolism, inborn errors - genetics (655) 655
adolescent (643) 643
erythrocytes - enzymology (628) 628
amino acid metabolism, inborn errors - enzymology (596) 596
cells, cultured (559) 559
mice (508) 508
medicine, research & experimental (498) 498
medicine & public health (468) 468
phenotype (466) 466
rats (454) 454
pregnancy (451) 451
kinetics (443) 443
internal medicine (441) 441
middle aged (441) 441
amino acid metabolism, inborn errors - genetics (437) 437
pedigree (434) 434
metabolism, inborn errors - diagnosis (424) 424
metabolic diseases (420) 420
biochemistry, general (414) 414
molecular sequence data (414) 414
lipid metabolism, inborn errors - enzymology (393) 393
heterozygote (370) 370
human genetics (343) 343
carbohydrate metabolism, inborn errors - enzymology (340) 340
base sequence (339) 339
physiological aspects (334) 334
deficiency (331) 331
metabolism, inborn errors - complications (322) 322
analysis (309) 309
lysosomes - enzymology (309) 309
dna mutational analysis (303) 303
gene (293) 293
leukocytes - enzymology (292) 292
brain - enzymology (284) 284
amino acid sequence (281) 281
genetic aspects (279) 279
research article (278) 278
research (261) 261
genotype (255) 255
mitochondria - enzymology (254) 254
oxidation-reduction (253) 253
mutations (244) 244
homozygote (243) 243
diagnosis (240) 240
neurosciences (236) 236
identification (233) 233
biochemistry (232) 232
lipid metabolism, inborn errors - genetics (232) 232
genetics (231) 231
expression (230) 230
liver (230) 230
metabolism, inborn errors (228) 228
genes (227) 227
cell biology (224) 224
disease models, animal (220) 220
hydrogen-ion concentration (218) 218
proteins (216) 216
amino acid metabolism, inborn errors - diagnosis (214) 214
purine-pyrimidine metabolism, inborn errors - enzymology (214) 214
cell line (210) 210
prenatal diagnosis (209) 209
skin - enzymology (207) 207
diagnosis, differential (204) 204
disease (201) 201
time factors (199) 199
fibroblasts (197) 197
ammonia - blood (195) 195
aged (193) 193
fatty acids - metabolism (193) 193
fibroblasts - metabolism (190) 190
biopsy (188) 188
liver - metabolism (188) 188
article (187) 187
metabolism, inborn errors - metabolism (180) 180
alleles (179) 179
medicine, general & internal (173) 173
clinical neurology (170) 170
disorders (169) 169
health aspects (168) 168
liver - pathology (166) 166
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (260) 260
UofT at Mississauga - Stacks (21) 21
UTL at Downsview - May be requested (20) 20
UofT at Scarborough - Stacks (10) 10
Chemistry (A D Allen) - Stacks (8) 8
Collection Dvlpm't (Acquisitions) - Closed Orders (7) 7
Collection Dvlpm't (Acquisitions) - Vendor file (5) 5
Earth Sciences (Noranda) - Stacks (5) 5
Online Resources - Online (4) 4
Gerstein Science - Missing (2) 2
Lakeridge Health Sciences - Oshawa (2) 2
St. Michael's Hospital - Stacks (2) 2
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (2) 2
Credit Valley Hospital - Missing (1) 1
Engineering & Comp. Sci. - Stacks (1) 1
Gerstein Science - Closed Orders (1) 1
Gerstein Science - Periodical Stacks (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Holland Bloorview Kids Rehabilitation - Sunnybrook Stacks (1) 1
Humber River Regional Hospital - Finch Stacks (1) 1
Markham Stouffville Hospital - Stacks (1) 1
Mt Sinai Hospital - Pathology (1) 1
OISE - Stacks (1) 1
Online (1) 1
Online Resources - Pharmacy (1) 1
Physics - Missing (1) 1
Providence Healthcare - Stacks (1) 1
Trinity College (John W Graham) - Stacks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (6507) 6507
French (191) 191
German (190) 190
Japanese (76) 76
Spanish (54) 54
Italian (51) 51
Russian (43) 43
Polish (26) 26
Dutch (19) 19
Chinese (14) 14
Czech (8) 8
Finnish (7) 7
Hungarian (6) 6
Portuguese (6) 6
Danish (4) 4
Romanian (4) 4
Slovak (3) 3
Swedish (3) 3
Hebrew (2) 2
Bulgarian (1) 1
Ndonga (1) 1
Norwegian (1) 1
Serbian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2008, Volume 31, Issue 2, pp. 230 - 239
Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | ENERGY HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | MAGNETIC-RESONANCE | CLINICAL CHARACTERISTICS | RAT-BRAIN | TRANSPORTER GENE SLC6A8 | INBORN ERROR | Glycine - analogs & derivatives | Glycine - metabolism | Prognosis | Guanidinoacetate N-Methyltransferase - genetics | Humans | Brain - enzymology | Amidinotransferases - genetics | Developmental Disabilities - genetics | Intellectual Disability - genetics | Membrane Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Movement Disorders - enzymology | Intellectual Disability - enzymology | Creatine - deficiency | Amidinotransferases - deficiency | Genetic Predisposition to Disease | Language Development Disorders - genetics | Speech Disorders - genetics | Language Development Disorders - enzymology | Phenotype | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Speech Disorders - enzymology | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Creatine | Central nervous system
Journal Article
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine... 
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Life Sciences
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, pp. 410 - 417
Journal Article
1977, Laboratory and research methods in biology and medicine ; v. 1., ISBN 9780845116500, Volume 1., xvi, 305
Book
Annual Review of Biochemistry, ISSN 0066-4154, 6/2016, Volume 85, pp. 485 - 514
Radical S -adenosylmethionine (SAM) enzymes catalyze an astonishing array of complex and chemically challenging reactions across all domains of life. Of... 
tRNA modifications | radicals | Elongator | iron-sulfur cluster | adenosylmethionine | viperin | lipoic acid | molybdenum cofactor | Lipoic acid | Molybdenum cofactor | Viperin | TRNA modifications | Iron-sulfur cluster | S-adenosylmethionine | Radicals | IRON-SULFUR PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MITOCHONDRIAL TRANSFER-RNAS | ANTIVIRAL PROTEIN VIPERIN | AMYOTROPHIC-LATERAL-SCLEROSIS | ADENOSYL-L-METHIONINE | LIPOIC ACID BIOSYNTHESIS | HEPATITIS-C VIRUS | PHENYLALANINE TRANSFER-RNA | MOLYBDENUM COFACTOR DEFICIENCY | GENOME-WIDE ASSOCIATION | Diabetes Mellitus, Type 2 - genetics | Humans | Histone Acetyltransferases - genetics | Iron-Sulfur Proteins - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Thioctic Acid - metabolism | Heart Defects, Congenital - genetics | tRNA Methyltransferases - genetics | Heart Defects, Congenital - enzymology | Histone Acetyltransferases - metabolism | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | tRNA Methyltransferases - metabolism | Gene Expression | Metal Metabolism, Inborn Errors - genetics | Neurodegenerative Diseases - pathology | Oxidoreductases - metabolism | Oxidoreductases - genetics | Diabetes Mellitus, Type 2 - enzymology | Heart Defects, Congenital - pathology | Metal Metabolism, Inborn Errors - pathology | Neurodegenerative Diseases - genetics | Nuclear Proteins - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Proteins - genetics | Proteins - metabolism | Metal Metabolism, Inborn Errors - enzymology | Iron-Sulfur Proteins - metabolism | Diabetes Mellitus, Type 2 - pathology | Mutation | S-Adenosylmethionine - metabolism | Neurodegenerative Diseases - enzymology | Health aspects | Methionine
Journal Article