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The Journal of clinical investigation, ISSN 0021-9738, 04/2019, Volume 130, Issue 7, pp. 2878 - 2887
Hematology | Genetic diseases | Genetics | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Anemia, Hemolytic, Congenital - metabolism | RNA Splice Sites | Humans | Erythrocyte Membrane - metabolism | Erythrocyte Membrane - pathology | Male | Mutation, Missense | Anemia, Hemolytic, Congenital - pathology | Anemia, Hemolytic, Congenital - genetics | Spectrin - biosynthesis | Erythrocyte Membrane - genetics | RNA Splicing - genetics | Female | Spectrin - genetics | Spectrin | Membranes | Genetic disorders | Transcription | Splicing | Laboratories | Anemia | Linkage disequilibrium | Erythrocytes | Iron | Medical diagnosis | Patients | Defects | Hemolytic anemia | Missense mutation | Etiology | Hereditary spherocytosis | Alleles | Genetic engineering | Mutation | Binding sites | Spherocytosis | DNA sequencing | mRNA stability | Index Medicus | Abridged Index Medicus
Journal Article
Disease markers, ISSN 0278-0240, 12/2015, Volume 2015, pp. 635670 - 7
Pathology | Life Sciences & Biomedicine | Genetics & Heredity | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Hemolysis | Diagnosis, Differential | Anemia, Hemolytic, Autoimmune - pathology | Humans | Anemia, Hemolytic, Autoimmune - drug therapy | Biomarkers - blood | Anemia, Hemolytic, Autoimmune - blood | Erythrocyte Count | Care and treatment | Hemolytic anemia | Serum | Genetic aspects | Diagnosis | Biological markers | Properties | Identification and classification | Genetic disorders | Haptoglobin | Implants, Artificial | Prosthesis | Glycosylated hemoglobin | Bilirubin | Index Medicus | Review
Journal Article
British journal of haematology, ISSN 0007-1048, 09/2019, Volume 186, Issue 5, pp. e142 - e145
Journal Article
British journal of haematology, ISSN 0007-1048, 09/2016, Volume 174, Issue 5, pp. 806 - 814
haemolytic anaemia | hereditary anaemias | hereditary spherocytosis | RBC membrane defect | next generation sequencing | Hereditary anaemias | Haemolytic anaemia | Next generation sequencing | Hereditary spherocytosis | Life Sciences & Biomedicine | Hematology | Science & Technology | High-Throughput Nucleotide Sequencing - economics | Molecular Diagnostic Techniques - methods | Gene Components - genetics | Cytoskeletal Proteins - genetics | Humans | Child, Preschool | Infant | Molecular Diagnostic Techniques - economics | Anemia, Hemolytic, Congenital - genetics | Hyperbilirubinemia, Hereditary - diagnosis | Young Adult | Anemia, Hemolytic, Congenital - diagnosis | Enzymes - genetics | Adolescent | Adult | Mutation | High-Throughput Nucleotide Sequencing - methods | Child | Infant, Newborn | Anemia | Index Medicus
Journal Article
American journal of hematology, ISSN 0361-8609, 03/2014, Volume 89, Issue 3, pp. 320 - 324
Life Sciences & Biomedicine | Hematology | Science & Technology | Intestinal Diseases - complications | Splenomegaly - surgery | Vacuoles - ultrastructure | Lipid Metabolism, Inborn Errors - genetics | Prevalence | Lipoproteins - genetics | Cholesterol - blood | Humans | Middle Aged | Male | Phytosterols - pharmacokinetics | Splenectomy | Thrombocytopenia - genetics | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Diagnostic Errors | Cell Shape | Splenomegaly - etiology | Adult | Female | Erythrocytes, Abnormal - ultrastructure | Phytosterols - adverse effects | Hypercholesterolemia - blood | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Intestinal Diseases - genetics | Exons - genetics | Delayed Diagnosis | Xanthomatosis - etiology | Phytosterols - genetics | Anemia, Hemolytic, Congenital - genetics | Intestinal Diseases - diagnosis | Phenotype | Phytosterols - blood | Purpura, Thrombocytopenic, Idiopathic - diagnosis | Intestinal Diseases - blood | Pedigree | Blood Platelets - ultrastructure | Hypercholesterolemia - diagnosis | Hypercholesterolemia - complications | ATP Binding Cassette Transporter, Sub-Family G, Member 8 | Hypercholesterolemia - genetics | Lipid Metabolism, Inborn Errors - complications | Osmotic Fragility | ATP Binding Cassette Transporter, Sub-Family G, Member 5 | Anemia | Analysis | Atherosclerosis | Phytosterols | Index Medicus
Journal Article
The Lancet infectious diseases, ISSN 1473-3099, 2011, Volume 11, Issue 9, pp. 671 - 676
Infectious Disease | Life Sciences & Biomedicine | Infectious Diseases | Science & Technology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | Diseases of red blood cells | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Platelet diseases and coagulopathies | Genome, Bacterial | Humans | Virulence | Escherichia coli Infections - microbiology | Male | Phylogeny | Multilocus Sequence Typing | Shiga-Toxigenic Escherichia coli - genetics | Sequence Analysis, DNA | Shiga Toxin 2 - genetics | Microbial Sensitivity Tests | Shiga-Toxigenic Escherichia coli - isolation & purification | Escherichia coli Infections - epidemiology | Feces - microbiology | Diarrhea - microbiology | Phenotype | Hemolytic-Uremic Syndrome - microbiology | Disease Outbreaks | Polymerase Chain Reaction | Female | Germany | Shiga-Toxigenic Escherichia coli - pathogenicity | Medicine, Experimental | Medical research | Microbiology | Health aspects | Escherichia coli | Index Medicus | Polymerase chain reaction | Pathogens | Shiga toxin | Epithelial cells | Intestine | Diarrhea | Antimicrobial agents | Feces | Epithelium | Zoonoses
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 06/2008, Volume 118, Issue 6, pp. 2157 - 2168
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Xenopus | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Anemia, Hemolytic - genetics | Chorea - pathology | Animals | Glucose Transporter Type 1 - genetics | Models, Biological | Erythrocytes - metabolism | Glucose Transporter Type 1 - physiology | Glucose - metabolism | Adult | Female | Cations | Chorea - genetics | Anemia, Hemolytic - etiology | Physical Exertion | Care and treatment | Hemolytic anemia | Gene mutations | Diagnosis | Research | Risk factors | Movement disorders | Index Medicus | Abridged Index Medicus
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Full Text
Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child
European journal of medical genetics, ISSN 1769-7212, 06/2020, Volume 63, Issue 6, p. 103880
Thrombotic microangiopathy | Children | Amnionless | Imerslund-gräsbeck syndrome | Vitamin B12 deficiency | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Anemia, Megaloblastic - genetics | Membrane Proteins - genetics | Anemia, Hemolytic - pathology | Humans | Infant | Male | Anemia, Hemolytic - genetics | Vitamin B 12 Deficiency - pathology | Proteinuria - genetics | Proteinuria - pathology | Malabsorption Syndromes - genetics | Homozygote | Pedigree | Vitamin B 12 Deficiency - genetics | Female | Anemia, Megaloblastic - pathology | Mutation | Malabsorption Syndromes - pathology | Child
Journal Article
Blood, ISSN 0006-4971, 11/2008, Volume 112, Issue 10, pp. 4314 - 4317
Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | Biological and medical sciences | Medical sciences | Diseases of red blood cells | Anemia, Sickle Cell - physiopathology | Stroke - diagnostic imaging | Humans | Hydro-Lyases - blood | Infant | Male | Cerebrovascular Circulation - genetics | Stroke - physiopathology | Stroke - genetics | Ultrasonography, Doppler, Transcranial | Globins - analysis | Female | alpha-Thalassemia - physiopathology | Hydro-Lyases - genetics | alpha-Thalassemia - genetics | Anemia, Sickle Cell - diagnostic imaging | Hemolysis - genetics | Glucosephosphate Dehydrogenase Deficiency - genetics | Glucosephosphate Dehydrogenase Deficiency - blood | Risk Factors | alpha-Thalassemia - diagnostic imaging | Glucosephosphate Dehydrogenase Deficiency - physiopathology | Blood Flow Velocity - genetics | Stroke - blood | Globins - genetics | alpha-Thalassemia - blood | Anemia, Sickle Cell - blood | Anemia, Sickle Cell - genetics | Cohort Studies | Glucosephosphate Dehydrogenase Deficiency - diagnostic imaging | Index Medicus | Abridged Index Medicus
Journal Article
Medizinische Genetik, ISSN 0936-5931, 12/2018, Volume 30, Issue 4, pp. 400 - 409
Human Genetics | Thrombotic microangiopathy | Gene Therapy | Alternativer Komplementweg | Gynecology | Oncology | Microangiopathic hemolytic anemia | Medicine/Public Health, general | Alternative complement pathway | Endothelium | Komplementsystem | Medicine & Public Health | Mikroangiopathische haemolytische Anaemie | Complement system | Endothel | Thrombotische Mikroangiopathie | Reproductive Medicine | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Thrombocytopenia | Complement factor H | Hemolytic anemia | Hemolytic uremic syndrome | Pathogenesis | Complement component C3 | Mutation | Alternative pathway | Membrane proteins | Erbliche Nierenerkrankungen | Schwerpunktthema
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