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1. Orphan
: the quest to save children with rare genetic disorders
by Reilly, Philip, 1947
2015, ISBN 1621821374, xix, 388 p., 12 unnumbered p.s of plates
Genetic disorders in children | MEDICAL / Diseases | Medical genetics | SCIENCE / Life Sciences / Genetics & Genomics | Genetic Diseases, Inborn | MEDICAL / Pediatrics | Rare Diseases | Research | Child
Book
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2. Small molecule therapy for genetic disease
by Thoene, Jess G
2010, ISBN 0521517818, xiii, 223
Metabolism, Inborn errors of | Orphan Drug Production | Chemotherapy | Genetic disorders | drug therapy | Small Molecule Libraries | Genetic Diseases, Inborn | Rare Diseases | Gene therapy | therapeutic use | Handbooks, manuals, etc
Book
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3. Full Text Induced pluripotent stem cells in disease modelling and drug discovery
by Rowe, R. Grant and Daley, George Q
Nature reviews. Genetics, ISSN 1471-0056, 07/2019, Volume 20, Issue 7, pp. 377 - 388
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Communicable Diseases - pathology | Communicable Diseases - therapy | Humans | Genetic Diseases, Inborn - genetics | Communicable Diseases - genetics | Drug Discovery - methods | Transplantation, Heterologous | Genetic Diseases, Inborn - pathology | Genetic Diseases, Inborn - therapy | Chimera - genetics | Tissue Transplantation - methods | Chimera - immunology | Neoplasms - therapy | Neoplasms - genetics | Models, Animal | Cell Differentiation | Induced Pluripotent Stem Cells - cytology | Cell Lineage - genetics | Tissue Engineering - methods | Induced Pluripotent Stem Cells - transplantation | Genetic Diseases, Inborn - immunology | Organoids - cytology | Animals | Models, Biological | Neoplasms - immunology | Communicable Diseases - immunology | Organoids - drug effects | Induced Pluripotent Stem Cells - immunology | Organoids - immunology | Neoplasms - pathology | Cell Lineage - immunology | Genetic Therapy - methods | Research | Drug discovery | Gene expression | Stem cells | Autografts | Phenotypes | Allografts | Infectious diseases | Organoids | Disease | Stem cell transplantation | Pluripotency | Inhibitory postsynaptic potentials
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4. Full Text Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes
by Clark, Joseph F and Cecil, Kim M
Pediatric research, ISSN 0031-3998, 03/2015, Volume 77, Issue 3, pp. 398 - 405
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Developmental Disabilities - drug therapy | Humans | Movement Disorders - diagnosis | Amidinotransferases - genetics | Language Development Disorders - etiology | Male | Movement Disorders - epidemiology | Amino Acid Metabolism, Inborn Errors - epidemiology | Incidence | Speech Disorders - pathology | Developmental Disabilities - pathology | Amino Acid Metabolism, Inborn Errors - genetics | Language Development Disorders - epidemiology | Brain Diseases, Metabolic, Inborn - pathology | Amino Acid Metabolism, Inborn Errors - pathology | Brain Diseases, Metabolic, Inborn - genetics | Intellectual Disability - epidemiology | Creatine - genetics | Mental Retardation, X-Linked - pathology | Creatine - biosynthesis | Intellectual Disability - pathology | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Developmental Disabilities - epidemiology | Speech Disorders - epidemiology | Utah - epidemiology | Brain Diseases, Metabolic, Inborn - drug therapy | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Mental Retardation, X-Linked - epidemiology | Language Development Disorders - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Infant | Developmental Disabilities - genetics | Brain Diseases, Metabolic, Inborn - epidemiology | Creatine - blood | Creatine - physiology | Mental Retardation, X-Linked - drug therapy | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Mental Retardation, X-Linked - genetics | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Creatine - deficiency | Female | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy - methods | Creatine - urine | Language Development Disorders - genetics | Movement Disorders - pathology | Language Development Disorders - pathology | Speech Disorders - genetics | Intellectual Disability - drug therapy | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Sex Factors | Movement Disorders - drug therapy | Index Medicus
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5. Full Text Pluripotent stem cells in disease modelling and drug discovery
by Avior, Yishai and Sagi, Ido and Benvenisty, Nissim
Nature reviews. Molecular cell biology, ISSN 1471-0072, 03/2016, Volume 17, Issue 3, pp. 170 - 182
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Autografts | Human Embryonic Stem Cells - metabolism | Stem Cell Transplantation - methods | Allografts | Animals | Humans | Genetic Diseases, Inborn - genetics | Genetic Diseases, Inborn - metabolism | Genetic Diseases, Inborn - therapy | Disease Models, Animal | Induced Pluripotent Stem Cells - metabolism | Usage | Forecasts and trends | Drug discovery | Medical case management | Health aspects | Stem cells | Index Medicus
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6. Full Text Inborn errors of creatine metabolism and epilepsy
by Leuzzi, Vincenzo and Mastrangelo, Mario and Battini, Roberta and Cioni, Giovanni
Epilepsia (Copenhagen), ISSN 0013-9580, 02/2013, Volume 54, Issue 2, pp. 217 - 227
Guanidinoacetate methyltransferase deficiency | Arginine:glycine amidinotransferase deficiency | Creatine transporter deficiency | Creatine | Epilepsy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Developmental Disabilities - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Humans | Epilepsy - metabolism | Male | Electroencephalography | Language Development Disorders - metabolism | Epilepsy - etiology | Membrane Transport Proteins - deficiency | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Creatine - metabolism | Intellectual Disability - enzymology | Female | Disease Models, Animal | Brain Diseases, Metabolic, Inborn - complications | Amidinotransferases - deficiency | Language Development Disorders - genetics | Guanidinoacetate N-Methyltransferase - metabolism | Intellectual Disability - drug therapy | Magnetic Resonance Imaging | Movement Disorders - metabolism | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Epilepsy - drug therapy | Speech Disorders - enzymology | Brain Diseases, Metabolic, Inborn - therapy | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Amino Acid Metabolism, Inborn Errors - drug therapy | Neurosciences | Metabolites | Genes | Transferases | Physiological aspects | Amino acids | Seizures (Medicine) | Drug resistance | Mental illness | Metabolism | Metabolic disorders | Index Medicus | Brain | EEG | Mental retardation | Fever | Learning | Magnetic resonance spectroscopy | Body fluids | Reviews | Language | Encephalopathy | Development | Convulsions | Guanidinoacetate N-methyltransferase | Movement disorders | Seizures
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7. Full Text DDIEM: drug database for inborn errors of metabolism
by Abdelhakim, Marwa and McMurray, Eunice and Syed, Ali Raza and Kafkas, Senay and Kamau, Allan Anthony and Schofield, Paul N and Hoehndorf, Robert
Orphanet journal of rare diseases, ISSN 1750-1172, 06/2020, Volume 15, Issue 1, pp. 1 - 146
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Enzymes | Phenotypes | Inborn errors of metabolism | Ontology | Disease | Research & development--R&D | Query expansion | Web Ontology Language-OWL | Hereditary diseases | Databases | Metabolites | Classification | Gene therapy | Metabolic disorders | Index Medicus | Drug effect | Orphan disease | Drug repositioning | Therapeutic procedure
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8. Full Text RNAi: a potential new class of therapeutic for human genetic disease
by Seyhan, Attila A
Human genetics, ISSN 0340-6717, 11/2011, Volume 130, Issue 5, pp. 583 - 605
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Parkinson Disease - therapy | Muscular Dystrophies - therapy | Humans | Anemia, Sickle Cell - drug therapy | Parkinson Disease - drug therapy | Spinocerebellar Ataxias - therapy | Genetic Diseases, Inborn - therapy | Molecular Targeted Therapy | Muscular Dystrophies - genetics | Amyotrophic Lateral Sclerosis - drug therapy | Huntington Disease - therapy | Neoplasms - therapy | Genes, Dominant | Neoplasms - genetics | RNA Interference | Spinocerebellar Ataxias - drug therapy | Huntington Disease - drug therapy | Spinocerebellar Ataxias - genetics | Amyotrophic Lateral Sclerosis - therapy | Amyotrophic Lateral Sclerosis - genetics | Alzheimer Disease - therapy | Muscular Dystrophies - drug therapy