UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.
Search Articles
Human genomics, ISSN 1473-9542, 2011, Volume 5, Issue 3, pp. 156 - 169
Lysosomal Storage Diseases - diagnosis | Specimen Handling | Phenotype | Proteins - metabolism | Humans | Chorionic Villi Sampling | Lysosomal Storage Diseases - genetics | Lysosomal Storage Diseases - metabolism | Genotype | Prenatal Diagnosis - methods | Genetic Testing - methods | Polymorphism, Genetic | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 10/2005, Volume 37, Issue 10, pp. 1038 - 1040
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Medical genetics | Biological and medical sciences | Cell physiology | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes | Amino Acid Sequence | Genetic Predisposition to Disease | Proto-Oncogene Proteins p21(ras) - genetics | Face - abnormalities | Humans | Molecular Sequence Data | Syndrome | Intellectual Disability - genetics | Cardiomyopathies - genetics | Neoplasms - genetics | Germ-Line Mutation | Female | Skin Abnormalities - genetics | Abnormalities, Multiple - genetics | Complications and side effects | Gene mutations | Physiological aspects | Research | Diagnosis | Mental retardation | Risk factors | Oncogenes | Index Medicus
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 140 - 140
ERAD | Glucocerebrosidase | Gaucher disease | Parkinson's disease | UPR | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Cell Line | Glucosylceramidase - genetics | Animals | Gaucher Disease - metabolism | Unfolded Protein Response - genetics | Humans | Endoplasmic Reticulum - metabolism | Glucosylceramidase - metabolism | Drosophila - metabolism | Gaucher Disease - pathology | Unfolded Protein Response - physiology | Genetic aspects | Gene mutations | Drosophila | Gaucher's disease | Medical research | Mutation | Kinases | Protein folding | Metabolic disorders | Index Medicus
Journal Article
Blood cells, molecules, & diseases, ISSN 1079-9796, 02/2013, Volume 50, Issue 2, pp. 141 - 145
ERAD | Glucocerebrosidase | Gaucher disease | Ambroxol | Life Sciences & Biomedicine | Hematology | Science & Technology | Ambroxol - pharmacology | Glucosylceramidase - chemistry | Ambroxol - therapeutic use | Fibroblasts - enzymology | Glucosylceramidase - genetics | Off-Label Use | Humans | Lysosomes - enzymology | Ambroxol - adverse effects | Protein Transport - drug effects | Enzyme Stability - drug effects | Gaucher Disease - pathology | Dose-Response Relationship, Drug | Protein Folding - drug effects | Drug Evaluation, Preclinical | Gaucher Disease - drug therapy | Lysosomes - drug effects | Enzyme Replacement Therapy | Cells, Cultured - drug effects | Endoplasmic Reticulum - physiology | Combined Modality Therapy | Cells, Cultured - enzymology | Glucosylceramidase - therapeutic use | Fibroblasts - drug effects | Glucosylceramidase - drug effects | Ambroxol - administration & dosage | Skin | Primary Cell Culture | Enzymes | Hydrolases | Nervous system diseases | Index Medicus
Journal Article
Scientific reports, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 6060 - 6060
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Niemann-Pick disease | Animal models | Cell survival | Immune response | AKT protein | Gene expression | Anti-inflammatory agents | 1-Phosphatidylinositol 3-kinase | Signal transduction | Molecular modelling | DNA microarrays | Interleukin 1 | Fibroblasts | Skin | Metabolic disorders | Gaucher's disease | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 01/2016, Volume 37, Issue 1, pp. 16 - 27
metachromatic leukodystrophy | ARSA | mutation | arylsulfatase A | saposin B | PSAP | Metachromatic leukodystrophy | Arylsulfatase A | Mutation | Saposin B | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Leukodystrophy, Metachromatic - genetics | Phenotype | Leukodystrophy, Metachromatic - diagnosis | Genetic Association Studies | Humans | Alleles | Databases, Genetic | Saposins - genetics | Genotype | Cerebroside-Sulfatase - genetics | Sphingolipidoses | Enzymes | Nervous system diseases | Genetic aspects | Genes | Proteins | Genetic disorders | Cells | Index Medicus
Journal Article
Clinical therapeutics, ISSN 0149-2918, 2009, Volume 31, Issue 3, pp. S177 - S178
Journal Article
Nature communications, ISSN 2041-1723, 07/2010, Volume 1, Issue 4, pp. 1 - 7
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Line | Diabetes Mellitus, Type 2 - genetics | Humans | Cells, Cultured | Gene Silencing | 3' Untranslated Regions - genetics | Molecular Sequence Data | Reverse Transcriptase Polymerase Chain Reaction | Antigens, CD - genetics | HMGA Proteins - genetics | Antigens, CD - metabolism | HMGA Proteins - metabolism | Blotting, Northern | Pseudogenes - genetics | Animals | Insulin Resistance - physiology | Models, Biological | Receptor, Insulin - genetics | HEK293 Cells | Insulin Resistance - genetics | Receptor, Insulin - metabolism | Electrophoretic Mobility Shift Assay | Mice | HeLa Cells | Index Medicus
Journal Article
9.
Full Text
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Human mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 139 - 147
lysosomal storage disorder | SMPD1 | acid sphingomyelinase | Niemann–Pick | Niemann-pick | Acid sphingomyelinase | Lysosomal storage disorder | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sphingomyelin Phosphodiesterase - genetics | Gene Expression | Niemann-Pick Disease, Type A - diagnosis | Genetic Association Studies | Exons | Introns | Humans | Open Reading Frames | RNA, Messenger - genetics | Niemann-Pick Disease, Type B - diagnosis | Databases, Genetic | Genotype | Niemann-Pick Disease, Type B - pathology | Niemann-Pick Disease, Type B - genetics | Genes, Recessive | Phenotype | RNA Splicing | Niemann-Pick Disease, Type A - pathology | Mutation | Niemann-Pick Disease, Type A - genetics | Enzymes | Databases | RNA | Analysis | Medical genetics | Genotype & phenotype | Genetic counseling | Genetic disorders | Index Medicus
Journal Article
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 507 - 511
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Gaucher Disease - epidemiology | Genotype | Male | Sweden - epidemiology | Phenotype | Gaucher Disease - genetics | beta-Glucosidase - genetics | Age of Onset | Adult | Female | Gaucher Disease - physiopathology | Italy - epidemiology | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 01/2020, Volume 29, Issue 2, pp. 274 - 285
Journal Article