Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (7095) 7095
Book / eBook (540) 540
Publication (447) 447
Book Review (104) 104
Book Chapter (90) 90
Newspaper Article (72) 72
Newsletter (66) 66
Magazine Article (22) 22
Conference Proceeding (13) 13
Dissertation (6) 6
Reference (6) 6
Report (2) 2
Trade Publication Article (2) 2
Data Set (1) 1
Presentation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (6485) 6485
female (3243) 3243
male (3156) 3156
metabolism, inborn errors - complications (1893) 1893
index medicus (1865) 1865
child (1723) 1723
infant (1681) 1681
adult (1566) 1566
pediatrics (1532) 1532
child, preschool (1447) 1447
infant, newborn (1419) 1419
metabolism (1357) 1357
adolescent (1098) 1098
amino acid metabolism, inborn errors - complications (904) 904
endocrinology & metabolism (877) 877
genetics & heredity (867) 867
animals (673) 673
medicine & public health (655) 655
mutation (643) 643
middle aged (641) 641
metabolic diseases (626) 626
pregnancy (597) 597
metabolism, inborn errors - diagnosis (567) 567
internal medicine (566) 566
diagnosis (527) 527
biochemistry, general (489) 489
children (482) 482
human genetics (479) 479
research (443) 443
enzymes (438) 438
metabolism, inborn errors - genetics (434) 434
medicine, research & experimental (433) 433
diagnosis, differential (420) 420
lipid metabolism, inborn errors - complications (404) 404
risk factors (389) 389
care and treatment (381) 381
clinical neurology (377) 377
disease (371) 371
medicine (364) 364
physiological aspects (358) 358
health aspects (356) 356
carbohydrate metabolism, inborn errors - complications (343) 343
phenotype (326) 326
pedigree (312) 312
amino acid metabolism, inborn errors - diagnosis (310) 310
disorders (305) 305
medicine, general & internal (303) 303
metabolism, inborn errors of (294) 294
treatment outcome (291) 291
analysis (289) 289
genetic aspects (285) 285
aged (284) 284
genetics (281) 281
deficiency (270) 270
inborn errors of metabolism (261) 261
young adult (234) 234
mutations (233) 233
amino acid metabolism, inborn errors - genetics (231) 231
intellectual disability - etiology (230) 230
metabolism, inborn errors (230) 230
metabolic disorders (225) 225
proteins (225) 225
syndrome (225) 225
infants (222) 222
patients (222) 222
research article (222) 222
liver (218) 218
transplantation (217) 217
retrospective studies (214) 214
magnetic resonance imaging (211) 211
gene (210) 210
diseases (207) 207
follow-up studies (201) 201
mice (200) 200
amino acids (199) 199
metabolism, inborn errors - therapy (199) 199
metabolites (199) 199
inborn-errors (196) 196
time factors (192) 192
prognosis (190) 190
biopsy (189) 189
heterozygote (189) 189
article (186) 186
diet (184) 184
urine (184) 184
metabolism, inborn errors - metabolism (181) 181
medical research (177) 177
biochemistry & molecular biology (173) 173
complications and side effects (173) 173
age factors (169) 169
brain - pathology (168) 168
intellectual disability - complications (167) 167
liver - pathology (164) 164
biochemistry (161) 161
electroencephalography (160) 160
brain (159) 159
neurosciences (157) 157
therapy (157) 157
age (155) 155
lipid metabolism, inborn errors - diagnosis (154) 154
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (426) 426
UofT at Mississauga - Stacks (18) 18
UTL at Downsview - May be requested (17) 17
Collection Dvlpm't (Acquisitions) - Vendor file (13) 13
UofT at Scarborough - Stacks (12) 12
Collection Dvlpm't (Acquisitions) - Closed Orders (11) 11
Holland Bloorview Kids Rehabilitation - Stacks (8) 8
Online Resources - Online (8) 8
Chemistry (A D Allen) - Stacks (7) 7
Earth Sciences (Noranda) - Stacks (4) 4
Gerstein Science - Missing (4) 4
St. Michael's Hospital - Stacks (4) 4
Engineering & Comp. Sci. - Stacks (2) 2
Lakeridge Health Sciences - Oshawa (2) 2
OISE - Stacks (2) 2
Toronto East General Hospital - Stacks (2) 2
Baycrest Hospital - Wellness Library (1) 1
Credit Valley Hospital - Missing (1) 1
General (1) 1
Gerstein Science - Closed Orders (1) 1
Humber River Regional Hospital - Finch Stacks (1) 1
Markham Stouffville Hospital - Stacks (1) 1
Mt Sinai Hospital - Pathology (1) 1
New College (Ivey) - Stacks (1) 1
Online (1) 1
Online Resources - Pharmacy (1) 1
Physics - Missing (1) 1
Providence Healthcare - Stacks (1) 1
Robarts - Stacks (1) 1
Scarborough Hospital - General (1) 1
Scarborough Hospital - Stacks (1) 1
St Josephs Health Centre - Stacks (1) 1
St. Michael's College (John M. Kelly) - 2nd Floor (1) 1
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (1) 1
Toronto East General Hospital - Missing (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 (6604) 6604
French (343) 343
German (322) 322
Spanish (121) 121
Japanese (117) 117
Italian (89) 89
Russian (72) 72
Polish (48) 48
Dutch (38) 38
Czech (27) 27
Chinese (26) 26
Portuguese (26) 26
Romanian (23) 23
Danish (13) 13
Hungarian (12) 12
Finnish (8) 8
Norwegian (8) 8
Turkish (8) 8
Croatian (7) 7
Swedish (6) 6
Slovak (4) 4
Hebrew (3) 3
Serbian (2) 2
Arabic (1) 1
Bulgarian (1) 1
Ndonga (1) 1
Ukrainian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Reversible encephalopathy caused by an inborn error of cobalamin metabolism
by Wang, Sheng-jun and Zhao, Yu-ying and Yan, Chuan-zhu
The Lancet, ISSN 0140-6736, 02/2019, Volume 393, Issue 10172, pp. e29 - e29
A 19-year-old woman was admitted because she had been behaving strangely and uncharacteristically for the past 6 months. She had also been unstable on her feet... 
MEDICINE, GENERAL & INTERNAL | Young Adult | Brain - diagnostic imaging | Humans | Age of Onset | Vitamin B 12 Deficiency - complications | Female | Brain Diseases - diagnostic imaging | Brain Diseases - etiology | Metabolism, Inborn Errors - complications | Atrophy | Spinal cord | Encephalopathy | Medical diagnosis | Vitamin B12 | Metabolism | Patients | Defects | Brain diseases
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Inborn errors of metabolism causing epilepsy
by RAHMAN, SHAMIMA and FOOTITT, EMMA J and VARADKAR, SOPHIA and CLAYTON, PETER T
Developmental Medicine & Child Neurology, ISSN 0012-1622, 01/2013, Volume 55, Issue 1, pp. 23 - 36
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine‐dependent epilepsy.... 
NONKETOTIC HYPERGLYCINEMIA | MENKES-DISEASE | 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY | BIOTINIDASE DEFICIENCY | HYPERPROLINEMIA TYPE-II | PYRIDOXINE-DEPENDENT EPILEPSY | DIHYDROFOLATE-REDUCTASE DEFICIENCY | PEDIATRICS | MOLYBDENUM COFACTOR DEFICIENCY | CEREBRAL FOLATE-DEFICIENCY | CLINICAL NEUROLOGY | CATHEPSIN-D DEFICIENCY | Age Factors | Humans | Pyridoxine - therapeutic use | Ubiquinone - therapeutic use | Epilepsy - drug therapy | Infant | Epilepsy - etiology | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - classification
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Malformation syndromes caused by disorders of cholesterol synthesis
by Porter, Forbes D and Herman, Gail E
Journal of Lipid Research, ISSN 0022-2275, 01/2011, Volume 52, Issue 1, pp. 6 - 34
Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological... 
Genetics | Smith-Lemli-Opitz syndrome | Cholesterol biosynthesis | MULTIPLE CONGENITAL-ANOMALIES | LAMIN-B-RECEPTOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | LEMLI-OPITZ-SYNDROME | LOW-DENSITY-LIPOPROTEIN | HUNERMANN-HAPPLE-SYNDROME | genetics | ANTLEY-BIXLER-SYNDROME | DOMINANT CHONDRODYSPLASIA PUNCTATA | cholesterol biosynthesis | P450 OXIDOREDUCTASE DEFICIENCY | EMOPAMIL-BINDING-PROTEIN | 3-BETA-HYDROXYSTEROL DELTA-REDUCTASE DEFICIENCY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - etiology | Lipid Metabolism, Inborn Errors - genetics | Smith-Lemli-Opitz Syndrome - genetics | Lipid Metabolism, Inborn Errors - metabolism | Humans | Chondrodysplasia Punctata - genetics | Congenital Abnormalities - etiology | Smith-Lemli-Opitz Syndrome - metabolism | Chondrodysplasia Punctata - metabolism | Oxidoreductases Acting on CH-CH Group Donors - deficiency | Syndrome | Oxidoreductases Acting on CH-CH Group Donors - metabolism | Smith-Lemli-Opitz Syndrome - etiology | Animals | Chondrodysplasia Punctata - etiology | Lipid Metabolism, Inborn Errors - etiology | Oxidoreductases Acting on CH-CH Group Donors - genetics | Steroid Metabolism, Inborn Errors | Lipid Metabolism, Inborn Errors - complications | Cholesterol - biosynthesis | Abnormalities, Multiple - genetics | Index Medicus | Thematic Review
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
by Muntau, Ania C and Leandro, João and Staudigl, Michael and Mayer, Felix and Gersting, Søren W
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2014, Volume 37, Issue 4, pp. 505 - 523
To attain functionality, proteins must fold into their three-dimensional native state. The intracellular balance between protein synthesis, folding, and... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | HEAT-SHOCK PROTEINS | AMINO-ACID SUPPLEMENTATION | MOLECULAR CHAPERONES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CYSTATHIONINE BETA-SYNTHASE | ALANINE-GLYOXYLATE AMINOTRANSFERASE | CYSTIC-FIBROSIS | HYPEROXALURIA TYPE-I | HISTONE DEACETYLASE INHIBITORS | PHENYLALANINE-HYDROXYLASE DEFICIENCY | GAUCHER-DISEASE | Proteostasis Deficiencies - metabolism | Proteostasis Deficiencies - therapy | Humans | Molecular Chaperones - therapeutic use | Metabolism, Inborn Errors - metabolism | Metabolism, Inborn Errors - therapy | Proteostasis Deficiencies - complications | Drug Delivery Systems | Animals | Proteins - metabolism | Protein Folding - drug effects | Endoplasmic Reticulum-Associated Degradation - physiology | Kinetics | Proteins - chemistry | Metabolism, Inborn Errors - complications | Molecular Chaperones - pharmacology | Proteins | Genetic research | Control systems | Protein biosynthesis | Amyloidosis | Protein binding
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the quality standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
by Michelson, D.J and Shevell, M.I and Sherr, E.H and Moeschler, J.B and Gropman, A.L and Ashwal, S
Neurology, ISSN 0028-3878, 10/2011, Volume 77, Issue 17, pp. 1629 - 1635
Objective: To systematically review the evidence concerning the diagnostic yield of genetic and metabolic evaluation of children with global developmental... 
INTELLECTUAL DISABILITY | IDIOPATHIC MENTAL-RETARDATION | HR-CGH | ARRAY-CGH | CLINICAL GENETICS | IMBALANCES | COMPARATIVE GENOMIC HYBRIDIZATION | DYSMORPHIC FEATURES | CHROMOSOMAL-ABNORMALITIES | MICROARRAY ANALYSIS | CLINICAL NEUROLOGY | Oxidoreductases, N-Demethylating - genetics | Developmental Disabilities - metabolism | Humans | Family Health | Male | Developmental Disabilities - genetics | Genetic Testing - methods | Methyl-CpG-Binding Protein 2 - genetics | Female | Developmental Disabilities - diagnosis | Microarray Analysis - methods | Genetic Testing - standards | Metabolism, Inborn Errors - metabolism | Transcription Factors - genetics | Advisory Committees - standards | Evidence-Based Medicine | Mutation - genetics | Metabolism, Inborn Errors - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Metabolism, Inborn Errors - diagnosis | Histone Demethylases | Neurology - standards | Fragile X Mental Retardation Protein - genetics | Metabolism, Inborn Errors - complications
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Metabolic dysregulation in monogenic disorders and cancer-finding method in madness
by Erez, Ayelet and Deberardinis, Ralph J
Nature Reviews Cancer, ISSN 1474-175X, 07/2015, Volume 15, Issue 7, pp. 440 - 448
Cancer is a prime example of a disease process in which carcinogenic and metabolic changes are intertwined to promote cell survival and growth. One approach to... 
FUMARATE HYDRATASE | HEPATOCELLULAR-CARCINOMA | IDH2 MUTATIONS | ONCOLOGY | ONLINE MENDELIAN INHERITANCE | GERMLINE MUTATIONS | L-2-HYDROXYGLUTARIC ACIDURIA | ARGININOSUCCINATE SYNTHETASE | MITOCHONDRIAL-DNA | MYOCLONUS EPILEPSY | INBORN-ERRORS | Neoplasms - metabolism | Animals | Neoplasms - etiology | Humans | Metabolism, Inborn Errors - metabolism | Glycolysis | Metabolism, Inborn Errors - complications | Phosphoglycerate Dehydrogenase - physiology | Isocitrate Dehydrogenase - physiology | Metabolism, Inborn errors of | Medicine, Experimental | Complications and side effects | Medical research | Carcinogenesis | Risk factors | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Inborn Errors of Bile Acid Metabolism
by Heubi, James E and Setchell, Kenneth D.R and Bove, Kevin E
Clinics in Liver Disease, ISSN 1089-3261, 11/2018, Volume 22, Issue 4, pp. 671 - 687
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be... 
Cirrhosis | Zellweger spectrum disorder | Neonatal cholestasis | Liver | CHOLIC-ACID | FAST-ATOM-BOMBARDMENT | DELTA-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY | CHOLESTATIC LIVER-DISEASE | GIANT-CELL HEPATITIS | CEREBROTENDINOUS XANTHOMATOSIS | TANDEM MASS-SPECTROMETRY | OXYSTEROL 7-ALPHA-HYDROXYLASE DEFICIENCY | CHENODEOXYCHOLIC ACID | GASTROENTEROLOGY & HEPATOLOGY | ZELLWEGER SPECTRUM DISORDERS | Genetic Testing | Humans | Liver Diseases - pathology | Bile Acids and Salts - metabolism | Adrenal Hyperplasia, Congenital - complications | Adrenal Hyperplasia, Congenital - genetics | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency | Acyl-CoA Oxidase - deficiency | Metabolism, Inborn Errors - genetics | Cholic Acid - therapeutic use | Metabolism, Inborn Errors - diagnosis | Cholestasis - etiology | Xanthomatosis, Cerebrotendinous - genetics | Liver Diseases - etiology | Racemases and Epimerases - deficiency | Steroid Hydroxylases - deficiency | Xanthomatosis, Cerebrotendinous - complications | Amino-Acid N-Acetyltransferase - deficiency | Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - complications
Journal Article
Details down arrow
8. Full Text Bloating and distention in irritable bowel syndrome: The role of gas production and visceral sensation after lactose ingestion in a population with lactase deficiency
by Zhu, Yujin and Zheng, Xia and Cong, Yanqun and Chu, Hua and Fried, Michael and Dai, Ning and Fox, Mark
American Journal of Gastroenterology, ISSN 0002-9270, 09/2013, Volume 108, Issue 9, pp. 1516 - 1525
OBJECTIVES: Bloating and distention are often attributed to dietary factors by patients with irritable bowel syndrome (IBS). This study examined the effects of... 
GASTROINTESTINAL SYMPTOMS | DIETARY-MANAGEMENT | HEALTHY-SUBJECTS | INTESTINAL BACTERIAL OVERGROWTH | CARBOHYDRATE MALABSORPTION | SENSITIVITY | FOOD INTOLERANCE | BREATH HYDROGEN | ALTERED RECTAL PERCEPTION | PREVALENCE | GASTROENTEROLOGY & HEPATOLOGY | Physical Stimulation | Flatulence - physiopathology | Flatulence - complications | Lactose - administration & dosage | Visceral Pain - physiopathology | Humans | Middle Aged | Carbohydrate Metabolism, Inborn Errors - complications | Male | Irritable Bowel Syndrome - physiopathology | Lactase - deficiency | Carbohydrate Metabolism, Inborn Errors - physiopathology | Irritable Bowel Syndrome - complications | Lactose Intolerance - physiopathology | Sensory Thresholds - physiology | Visceral Pain - complications | Dilatation, Pathologic - complications | Lactose Intolerance - complications | Adult | Female
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine
by Demirbas, Didem and Brucker, William J and Berry, Gerard T
Pediatric Clinics of North America, ISSN 0031-3955, 04/2018, Volume 65, Issue 2, pp. 337 - 352
The liver is one of the most essential organs in metabolism and is responsible for metabolizing a wide variety of molecules from amino acids to sugars.... 
Tyrosinemia | Inborn errors of metabolism | Liver | Liver disease | Hepatopathy | Fructose intolerance | Galactosemia | Nitisinone | DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY | INTOLERANCE | ALDOLASE | GENE | DIETARY | PEDIATRICS | Galactose - metabolism | Liver - pathology | Metabolism, Inborn Errors - diagnosis | Tyrosine - metabolism | Humans | Liver Diseases - etiology | Liver Diseases - therapy | Metabolism, Inborn Errors - therapy | Fructose - metabolism | Infant, Newborn | Metabolism, Inborn Errors - complications | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
10. Full Text Diagnosis and management of glutaric aciduria type I--revised recommendations
by Kölker, Stefan and Christensen, Ernst and Leonard, James V and Greenberg, Cheryl R and Boneh, Avihu and Burlina, Alberto B and Burlina, Alessano P and Dixon, Marjorie and Duran, Marinus and García Cazorla, Angels and Goodman, Stephen I and Koeller, David M and Kyllerman, Mårten and Mühlhausen, Chris and Müller, Edith and Okun, Jürgen G and Wilcken, Bridget and Hoffmann, Georg F and Burgard, Peter and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2011, Volume 34, Issue 3, pp. 677 - 694
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MOVEMENT-DISORDERS | 3-HYDROXYGLUTARIC ACID | L-CARNITINE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | COA DEHYDROGENASE-DEFICIENCY | ACIDEMIA TYPE-I | TANDEM MASS-SPECTROMETRY | BILATERAL ARACHNOID CYSTS | CEREBRAL-PALSY | NATURAL-HISTORY | INBORN-ERRORS | Amino Acid Metabolism, Inborn Errors - complications | Humans | Neonatal Screening - methods | Amino Acid Metabolism, Inborn Errors - therapy | Mass Screening - methods | Nervous System Diseases - therapy | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Algorithms | Brain Diseases, Metabolic - diagnosis | Monitoring, Physiologic - methods | Nervous System Diseases - etiology | Emergency Medical Services - methods | Infant, Newborn | Brain Diseases, Metabolic - complications | Glutaryl-CoA Dehydrogenase - deficiency | Practice Guidelines as Topic | Care and treatment | Molecular genetics | Children's hospitals | Emergency medicine | Physiological aspects | Amino acids | Children | Diagnosis | Health aspects | Mass spectrometry | Chromatography | Diseases | Original | MEDICIN OCH HÄLSOVETENSKAP | MEDICAL AND HEALTH SCIENCES
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights