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1. Congenital anomalies
Nihon Senten Ijō Gakkai
Congenital anomalies, ISSN 1741-4520, 1987
Periodicals | Abnormalities, Human | Genetic disorders | Medical genetics
Journal
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2. Full Text Osteoporosis complicating some inborn or acquired diseases
by Zofkova, I and Nemcikova, P
Physiological research, ISSN 0862-8408, 2018, Volume 67, Issue Supplementum 3, pp. S441 - S454
Celiac disease | Crohn disease | Osteoporosis | Phenylketonuria | Hyperthyreosis | Rheumatoid arthritis | Life Sciences & Biomedicine | Physiology | Science & Technology | Crohn Disease - genetics | Celiac Disease - genetics | Diabetes Mellitus - genetics | Humans | Crohn Disease - metabolism | Diabetes Mellitus - metabolism | Bone Remodeling - physiology | Crohn Disease - complications | Metabolic Diseases - metabolism | Osteoporosis - metabolism | Osteoporosis - complications | Celiac Disease - complications | Metabolic Diseases - genetics | Osteoporosis - genetics | Celiac Disease - metabolism | Metabolic Diseases - complications | Genes | Systematic review | Diabetes mellitus (insulin dependent) | Inflammatory diseases | Acquired immune deficiency syndrome--AIDS | Population | Bone density | Bone (cortical) | Diabetes mellitus (non-insulin dependent) | Gluten | Chronic illnesses | Cytokines | Diabetes mellitus | Inflammation | Bone turnover | Quality of life | Fractures | Womens health | Collagen | Adults | Diabetes | Porosity | Autoimmune diseases | Metabolic disorders
Journal Article
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3. Full Text Nephrolithiasis related to inborn metabolic diseases
by Cochat, Pierre and Cochat, Pierre and Pichault, Valérie and Pichault, Valérie and Bacchetta, Justine and Bacchetta, Justine and Dubourg, Laurence and Dubourg, Laurence and Sabot, Jean-François and Sabot, Jean-François and Saban, Christine and Saban, Christine and Daudon, Michel and Daudon, Michel and Liutkus, Aurélia and Liutkus, Aurélia
Pediatric Nephrology, ISSN 0931-041X, 3/2010, Volume 25, Issue 3, pp. 415 - 424
Pyrimidine metabolism | Pediatrics | Nephrocalcinosis | Medicine & Public Health | Glycogen storage disease type 1 | Primary hyperoxaluria | Nephrolithiasis | Uric acid | Xanthine | Fanconi syndrome | Cystinuria | Purine metabolism | Glycogen storage disease type 1 | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Nephrolithiasis - etiology | Purine-Pyrimidine Metabolism, Inborn Errors - metabolism | Humans | Glycogen Storage Disease Type I - metabolism | Hyperoxaluria - etiology | Metabolism, Inborn Errors - genetics | Glycogen Storage Disease Type I - complications | Amino Acid Metabolism, Inborn Errors - metabolism | Glycogen Storage Disease Type I - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - complications | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Nephrolithiasis - genetics | Child | Hyperoxaluria - genetics | Metabolism, Inborn Errors - complications | Metabolic disorders | Index Medicus | Educational Review
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4. Full Text Rheumatological manifestations in inborn errors of immunity
by Köstel Bal, Sevgi and Pazmandi, Julia and Boztug, Kaan and Özen, Seza
Pediatric research, ISSN 0031-3998, 01/2020, Volume 87, Issue 2, pp. 293 - 299
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Genetic Predisposition to Disease | Risk Assessment | Humans | Risk Factors | Autoimmunity - genetics | Primary Immunodeficiency Diseases - physiopathology | Immune System - growth & development | Rheumatic Diseases - genetics | Rheumatic Diseases - physiopathology | Phenotype | Animals | Primary Immunodeficiency Diseases - immunology | Immune System - immunology | Primary Immunodeficiency Diseases - complications | Primary Immunodeficiency Diseases - genetics | Rheumatic Diseases - immunology | Medical research | Baldness | Disease | Pathogenesis | Genes | Homeostasis | Infections | T cell receptors | Arthritis | Defects | Genotype & phenotype | Alopecia | Lymphocytes | Mutation | Health risk assessment | Immune system | Index Medicus
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5. Full Text Hereditary Disorders of Cardiovascular Calcification
by Rutsch, Frank and Buers, Insa and Nitschke, Yvonne
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 11/2020, Volume 41, Issue 1, pp. 35 - 47
Metacarpus - metabolism | Humans | Odontodysplasia - metabolism | Vascular Calcification - genetics | Metacarpus - abnormalities | Dental Enamel Hypoplasia - complications | Aortic Diseases - metabolism | Arteries - metabolism | Vascular Calcification - metabolism | Osteoporosis - metabolism | Vascular Calcification - complications | Osteoporosis - genetics | Dental Enamel Hypoplasia - metabolism | Osteogenesis - genetics | Genetic Predisposition to Disease | Gaucher Disease - metabolism | Risk Assessment | Muscular Diseases - metabolism | Risk Factors | Metabolism, Inborn Errors - metabolism | Heredity | Arteries - pathology | Gaucher Disease - complications | Vascular Calcification - pathology | Metabolism, Inborn Errors - genetics | Odontodysplasia - complications | Aortic Diseases - genetics | Phenotype | Animals | Gaucher Disease - genetics | Osteoporosis - complications | Aortic Diseases - complications | Muscular Diseases - complications | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Metabolism, Inborn Errors - complications | Index Medicus
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6. Inborn Errors of Bile Acid Metabolism
by Heubi, James E and Setchell, Kenneth D.R and Bove, Kevin E
Clinics in liver disease, ISSN 1089-3261, 11/2018, Volume 22, Issue 4, pp. 671 - 687
Cirrhosis | Zellweger spectrum disorder | Neonatal cholestasis | Liver | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Humans | Liver Diseases - pathology | Bile Acids and Salts - metabolism | Adrenal Hyperplasia, Congenital - complications | Adrenal Hyperplasia, Congenital - genetics | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency | Acyl-CoA Oxidase - deficiency | Metabolism, Inborn Errors - genetics | Cholic Acid - therapeutic use | Metabolism, Inborn Errors - diagnosis | Cholestasis - etiology | Xanthomatosis, Cerebrotendinous - genetics | Liver Diseases - etiology | Racemases and Epimerases - deficiency | Steroid Hydroxylases - deficiency | Xanthomatosis, Cerebrotendinous - complications | Amino-Acid N-Acetyltransferase - deficiency | Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - complications
Journal Article
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7. Full Text Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease
by Lougaris, Vassilios, MD and Tabellini, Giovanna, PhD and Vitali, Massimiliano, PhD and Baronio, Manuela, PhD and Patrizi, Ornella, PhD and Tampella, Giacomo, PhD and Biasini, Augusto, MD and Moratto, Daniele, PhD and Parolini, Silvia, PhD and Plebani, Alessandro, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 135, Issue 6, pp. 1641 - 1643.e3
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Common Variable Immunodeficiency - immunology | Alopecia - complications | Alopecia - immunology | Humans | Genetic Diseases, Inborn - genetics | Hypoglycemia - immunology | Molecular Sequence Data | Male | Hypoglycemia - pathology | Killer Cells, Natural - pathology | Genetic Diseases, Inborn - pathology | Adrenocorticotropic Hormone - genetics | Respiratory Tract Infections - genetics | Endocrine System Diseases - immunology | Alopecia - genetics | NF-kappa B p52 Subunit - genetics | Adrenocorticotropic Hormone - deficiency | Base Sequence | Genetic Diseases, Inborn - complications | Killer Cells, Natural - immunology | Adult | Respiratory Tract Infections - complications | B-Lymphocytes - pathology | Endocrine System Diseases - genetics | T-Lymphocytes - pathology | Endocrine System Diseases - pathology | Respiratory Tract Infections - pathology | Hypoglycemia - genetics | Gene Expression | NF-kappa B p52 Subunit - immunology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Common Variable Immunodeficiency - complications | Alopecia - pathology | B-Lymphocytes - immunology | Adrenocorticotropic Hormone - immunology | Respiratory Tract Infections - immunology | Hypoglycemia - complications | Heterozygote | T-Lymphocytes - immunology | Mutation | Cytotoxicity, Immunologic | Endocrine System Diseases - complications | Immunoglobulins | Baldness | Laboratories | Cytotoxicity | Infections | Kinases | Hypothyroidism | Patients | Defects | Genotype & phenotype | Hormone replacement therapy | Age | Immune system | Index Medicus | Abridged Index Medicus
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8. Full Text Consanguinity and Inbreeding in Health and Disease in North African Populations
by Romdhane, Lilia and Mezzi, Nessrine and Hamdi, Yosr and El-Kamah, Ghada and Barakat, Abdelhamid and Abdelhak, Sonia
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2019, Volume 20, Issue 1, pp. 155 - 179
North Africa | consanguinity | genetic disease | endogamy | founder mutation | Communicable Diseases - pathology | Genetic Diseases, Inborn - ethnology | Humans | Genetic Diseases, Inborn - genetics | Communicable Diseases - genetics | Male | Genetic Diseases, Inborn - pathology | Founder Effect | Neoplasms - complications | Ethnic Groups | Neoplasms - ethnology | Neoplasms - genetics | Genetic Diseases, Inborn - complications | Female | Severity of Illness Index | Neurodegenerative Diseases - pathology | Neurodegenerative Diseases - genetics | Genes, Recessive | Neurodegenerative Diseases - complications | Genetic Heterogeneity | Communicable Diseases - ethnology | Consanguinity | Mutation | Neurodegenerative Diseases - ethnology | Africa, Northern - epidemiology | Neoplasms - pathology | Communicable Diseases - complications | Inbreeding | Genetic disorders | Etiology | Index Medicus
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9. Full Text Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
by Bosch, Annet M and Abeling, Nico G. G. M and Ijlst, Lodewijk and Knoester, Hennie and van der Pol, W. Ludo and Stroomer, Alida E. M and Wanders, Ronald J and Visser, Gepke and Wijburg, Frits A and Duran, Marinus and Waterham, Hans R
Journal of inherited metabolic disease, ISSN 0141-8955, 2011, Volume 34, Issue 1, pp. 159 - 164
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Biological and medical sciences | Metabolic diseases | Medical sciences | Medical genetics | Diagnosis, Differential | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis | Humans | Bulbar Palsy, Progressive - diagnosis | Bulbar Palsy, Progressive - therapy | Bulbar Palsy, Progressive - complications | Infant | Male | Hearing Loss, Sensorineural - genetics | Metabolism, Inborn Errors - therapy | Metabolism, Inborn Errors - genetics | Hearing Loss, Sensorineural - diagnosis | Metabolism, Inborn Errors - diagnosis | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics | Hearing Loss, Sensorineural - therapy | Membrane Transport Proteins - genetics | Bulbar Palsy, Progressive - genetics | Riboflavin - metabolism | Female | Hearing Loss, Sensorineural - complications | Child | Siblings | Medical colleges | Deafness | Neurosciences | Nervous system diseases | Dehydrogenation | Analysis | Physiological aspects | Paralysis | Adipic acid | Organic acids | Index Medicus | Rapid Communication
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10. Inherited metabolic epilepsies
by Pearl, Phillip L
2013, ISBN 9781617050565, xiv, 356
Metabolism, Inborn errors of | complications | Brain Diseases, Metabolic, Inborn | Epilepsy | therapy | diagnosis | Genetic aspects | etiology
Book
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11. Full Text An infant with Pearson syndrome: A rare cause of congenital sideroblastic anemia and bone marrow failure
by Falcon, P and Howard, Thomas H
Blood, ISSN 0006-4971, 05/2017, Volume 129, Issue 19, pp. 2710 - 2710
Life Sciences & Biomedicine | Hematology | Science & Technology | Mitochondrial Diseases - pathology | Lipid Metabolism, Inborn Errors - genetics | Congenital Bone Marrow Failure Syndromes | Humans | Mitochondrial Diseases - metabolism | Infant | Male | Anemia, Sideroblastic - metabolism | Mitochondrial Diseases - complications | Lipid Metabolism, Inborn Errors - pathology | Anemia, Sideroblastic - complications | Bone Marrow - metabolism | Anemia, Sideroblastic - pathology | Bone Marrow Diseases - complications | Mitochondrial Diseases - genetics | Lipid Metabolism, Inborn Errors - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - metabolism | Muscular Diseases - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Bone Marrow Diseases - metabolism | Muscular Diseases - pathology | Bone Marrow Diseases - pathology | Bone Marrow Diseases - genetics | Anemia, Sideroblastic - genetics | Bone Marrow - pathology | Muscular Diseases - complications | Lipid Metabolism, Inborn Errors - complications | Muscular Diseases - genetics | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Index Medicus | Abridged Index Medicus
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12. Full Text Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity
by Zhang, Shen-Ying
Human genetics, ISSN 0340-6717, 02/2020, Volume 139, Issue 6-7, pp. 911 - 918
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Central Nervous System Diseases - genetics | Encephalitis, Herpes Simplex - immunology | Genetic Predisposition to Disease | Central Nervous System Diseases - epidemiology | Humans | Central Nervous System Diseases - immunology | Encephalitis, Herpes Simplex - epidemiology | Central Nervous System Diseases - virology | Herpes Simplex - immunology | Host-Pathogen Interactions - immunology | Immunity, Cellular - immunology | Herpes Simplex - virology | Encephalitis, Herpes Simplex - virology | Host-Pathogen Interactions - genetics | Encephalitis, Herpes Simplex - genetics | Herpes Simplex - complications | Herpesvirus 1, Human - immunology | Mutation | Child | Herpesvirus 1, Human - pathogenicity | Virus diseases | Encephalitis | Antiviral agents | Central nervous system | Herpes simplex | Genetic aspects | Herpes simplex virus | α-Interferon | Immunology | Brain stem | Herpes viruses | Toll-like receptors | Forebrain | Nervous system | Children | TLR3 protein | Index Medicus
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