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1964, Rev., 56
Book
Molecular genetics and metabolism, ISSN 1096-7192, 11/2015, Volume 116, Issue 3, pp. 171 - 177
magnetic resonance | intellectual quotient | phenylketonuria | intellectual outcome in phenylketonuria | white matter outcome in phenylketonuria | Intellectual outcome in phenylketonuria | Phenylketonuria | Intellectual quotient | Magnetic resonance | White matter outcome in phenylketonuria | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Follow-Up Studies | Humans | Male | Intelligence Tests | White Matter - pathology | Phenylketonurias - therapy | Young Adult | Magnetic Resonance Imaging | Phenylketonurias - blood | Adolescent | Aging | Adult | Female | Phenylalanine - blood | Retrospective Studies | Phenylketonurias - pathology | Child | Longitudinal Studies | Medicine, Experimental | Medical research | Index Medicus
Journal Article
2013, Johns Hopkins biographies of disease, ISBN 9781421411323, xxiv, 289
Book
The Lancet (British edition), ISSN 0140-6736, 2010, Volume 376, Issue 9750, pp. 1417 - 1427
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | General aspects | Medical sciences | Aminoacid disorders | Intellectual Disability - prevention & control | Phenylketonurias - therapy | Pregnancy | Phenylketonurias - diagnosis | Pregnancy Complications - diet therapy | Humans | Phenylketonurias - prevention & control | Female | Phenylketonurias - complications | Intellectual Disability - etiology | Neonatal Screening | Infant, Newborn | Development and progression | Phenylketonuria | Care and treatment | Diagnosis | Enzymes | Ammonia | Brain | Biosynthesis | Mutation | Mass spectrometry | Index Medicus | Abridged Index Medicus
Journal Article
Nature medicine, ISSN 1078-8956, 10/2018, Volume 24, Issue 10, pp. 1519 - 1525
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Phenylalanine Hydroxylase - genetics | Dependovirus - genetics | Liver - pathology | Liver Diseases - genetics | Phenylketonurias - genetics | Recombinational DNA Repair - genetics | Humans | Liver - metabolism | Liver Diseases - pathology | Liver Diseases - therapy | DNA - therapeutic use | CRISPR-Cas Systems - genetics | Gene Editing | DNA - genetics | Phenylketonurias - therapy | Animals | Phenylalanine Hydroxylase - therapeutic use | Phenylalanine - blood | Phenylketonurias - metabolism | Mice | Liver Diseases - metabolism | Phenylketonurias - pathology | Disease Models, Animal | Genetic Therapy - methods | Metabolic diseases | Care and treatment | Genetic aspects | Liver diseases | Gene therapy | Methods | Intravenous administration | Inborn errors of metabolism | Enzyme activity | Phenylalanine 4-monooxygenase | Liver | DNA damage | Editing | Viruses | Homology | Genomes | mRNA | DNA repair | Proteins | Reversion | Enzymatic activity | Restoration | Cargo capacity | Fusion protein | Repair | Deoxyribonucleic acid--DNA | CRISPR | Phenotypes | Phenylketonuria | Phenylalanine | Base pairs | Hydroxylase | Medical treatment | Metabolism | Mutation | Index Medicus
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 06/2014, Volume 112, Issue 2, pp. 87 - 122
Sapropterin | Phenylketonuria | Glycomacropeptide | Large neutral amino acids | Maternal PKU | Hyperphenylalaninemia | MATERNAL BLOOD PHENYLALANINE | GENOTYPE-PHENOTYPE CORRELATIONS | THERAPEUTIC LIVER REPOPULATION | CONTINUOUSLY TREATED PHENYLKETONURIA | TANDEM MASS-SPECTROMETRY | NEUTRAL AMINO-ACIDS | DIHYDROPTERIDINE REDUCTASE DEFICIENCY | TETRAHYDROBIOPTERIN LOADING TEST | Maternal PIN | ENZYME REPLACEMENT THERAPY | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Phenylketonurias - diagnosis | United States | Humans | Evidence-Based Medicine | Biopterin - analogs & derivatives | National Institutes of Health (U.S.) | Phenylketonurias - therapy | Pregnancy | Phenylketonurias - blood | Biopterin - therapeutic use | Female | Disease Management | Diet Therapy | Infant, Newborn | Practice Guidelines as Topic | Conferences, meetings and seminars | Phenylalanine | Conferences and conventions | Index Medicus
Journal Article