X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1443) 1443
Publication (149) 149
Book Chapter (94) 94
Book / eBook (40) 40
Book Review (30) 30
Conference Proceeding (9) 9
Dissertation (4) 4
Magazine Article (4) 4
Journal / eJournal (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (894) 894
index medicus (732) 732
female (391) 391
male (372) 372
animals (292) 292
mutation (289) 289
genetics & heredity (227) 227
adult (207) 207
genetic aspects (192) 192
child (162) 162
diagnosis (157) 157
analysis (153) 153
genetics (149) 149
medicine (146) 146
pediatrics (145) 145
middle aged (142) 142
inherited metabolic diseases (137) 137
research (134) 134
inherited metabolic disorders (132) 132
inherited metabolic disease (129) 129
disease (127) 127
child, preschool (123) 123
adolescent (121) 121
clinical neurology (120) 120
infant, newborn (117) 117
neurosciences (117) 117
metabolism (115) 115
biochemistry & molecular biology (113) 113
medicine, research & experimental (112) 112
infant (109) 109
research article (108) 108
risk factors (106) 106
children (105) 105
genetic disorders (104) 104
mutations (103) 103
article (97) 97
mice (97) 97
endocrinology & metabolism (95) 95
enzymes (94) 94
phenotype (90) 90
metabolic disorders (89) 89
cell biology (88) 88
multidisciplinary sciences (88) 88
physiological aspects (88) 88
health aspects (86) 86
gene (85) 85
science (85) 85
proteins (83) 83
hematology (82) 82
medicine & public health (82) 82
genes (79) 79
aged (75) 75
care and treatment (74) 74
human genetics (74) 74
inherited disorders (74) 74
ophthalmology (74) 74
young adult (74) 74
inborn errors of metabolism (73) 73
metabolic diseases (72) 72
disease models, animal (71) 71
genetic predisposition to disease (68) 68
neurology (67) 67
disorders (66) 66
pedigree (65) 65
deficiency (63) 63
amino acids (62) 62
patients (61) 61
biology (60) 60
diseases (60) 60
inborn-errors (59) 59
biochemistry (57) 57
genomics (56) 56
pregnancy (56) 56
prevalence (56) 56
clinical genetics (55) 55
genetic diseases (55) 55
mass spectrometry (55) 55
medicine and health sciences (54) 54
gene expression (53) 53
medical research (53) 53
rats (52) 52
biology and life sciences (51) 51
identification (51) 51
transplantation (51) 51
magnetic resonance imaging (50) 50
inherited diseases (49) 49
life sciences (49) 49
pathology (49) 49
genotype (48) 48
metabolism, inborn errors - diagnosis (48) 48
point mutation (48) 48
review (48) 48
genomes (47) 47
inherited metabolic disorder (47) 47
internal medicine (47) 47
retrospective studies (47) 47
expression (46) 46
gene therapy (46) 46
genetic research (46) 46
inherited (46) 46
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (26) 26
Online Resources - Online (3) 3
UTL at Downsview - May be requested (3) 3
Collection Dvlpm't (Acquisitions) - Vendor file (2) 2
UofT at Mississauga - Stacks (2) 2
Collection Dvlpm't (Acquisitions) - Closed Orders (1) 1
Collection Dvlpm't (Acquisitions) - Stacks (1) 1
Gerstein Science - Reference (1) 1
Holland Bloorview Kids Rehabilitation - Reference (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Humber River Regional Hospital - Finch Stacks (1) 1
Lakeridge Health Sciences - Oshawa (1) 1
OISE - Stacks (1) 1
Robarts - Stacks (1) 1
St. Michael's Hospital - Stacks (1) 1
Sunnybrook Health Sciences Centre - Sunnybrook 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 (1489) 1489
French (21) 21
Spanish (20) 20
Dutch (18) 18
German (15) 15
Chinese (5) 5
Japanese (4) 4
Russian (3) 3
Korean (2) 2
Polish (2) 2
Czech (1) 1
Italian (1) 1
Lithuanian (1) 1
Portuguese (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


11/2016, 6 ed., ISBN 3662497697, 643
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an... 
Pre-clinical Medicine: Basic Sciences | Human Genetics | Pediatrics | Neurology | Medicine & Public Health | Endocrinology
eBook
Pediatric Pulmonology, ISSN 8755-6863, 08/2019, Volume 54, Issue 8, pp. 1190 - 1199
Objectives We aimed to call attention to respiratory system manifestations which occur in the course of many inherited metabolic diseases (IMD), and present as... 
chronic airway aspiration | respiratory involvement | alveolar hypoventilation | upper airway obstruction | inherited metabolic diseases | PULMONARY | RESPIRATORY SYSTEM | PEDIATRICS | HYPERTENSION | CHILDREN | Genetic aspects | Children | Mortality | Diseases
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2019, Volume 127, Issue 1, pp. 28 - 30
About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic... 
Parkinsonism | Inborn errors of metabolism | Choreoathetosis | Inherited metabolic diseases | Myoclonus | Tremor | Ataxia | Dystonia | Movement disorders | Hypokinetic-rigid syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | INBORN-ERRORS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY
Journal Article
Journal Article
MEDIZINISCHE GENETIK, ISSN 1863-5490, 10/2015, Volume 27, Issue 3, pp. 268 - 275
Clinical presentation, diagnosis, and treatment of inherited metabolic diseases are best understood with regard to the metabolic pathway that contains the... 
Screening | DEFECTS | Inborn errors of metabolism | CLINICAL UPDATE | Inherited metabolic diseases | Metabolic tests | GENETICS & HEREDITY | DISORDERS | Intermediary metabolism | LEMLI-OPITZ SYNDROME | INBORN-ERRORS
Journal Article
Bone Marrow Transplantation, ISSN 0268-3369, 02/2003, Volume 31, Issue 4, pp. 229 - 239
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2016, Volume 11, Issue 1, pp. 1 - 10
Journal Article