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PLoS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, p. e0185785
.... Antithrombin III deficiency (6.3%) was most frequently detected, followed by protein... 
POPULATION | FACTOR-V-LEIDEN | RISK-FACTORS | MANAGEMENT | MULTIDISCIPLINARY SCIENCES | PULMONARY-EMBOLISM | MUTATION | DEEP-VEIN THROMBOSIS | ANTITHROMBIN-III | PROTEIN-C | CARRIERS | Protein C Deficiency - complications | Conjunctivitis - genetics | Protein C Deficiency - physiopathology | Humans | Middle Aged | Plasminogen - genetics | Male | Antithrombin III Deficiency - genetics | Antithrombin III - genetics | Skin Diseases, Genetic - genetics | Thrombophilia - etiology | Protein S Deficiency - genetics | Thrombophilia - diagnosis | Antithrombin III Deficiency - physiopathology | Skin Diseases, Genetic - diagnosis | Adult | Female | Retrospective Studies | Antithrombin III Deficiency - complications | Protein S Deficiency - physiopathology | Skin Diseases, Genetic - complications | Antithrombin III Deficiency - diagnosis | Republic of Korea | Venous Thromboembolism - diagnosis | Thrombophilia - genetics | Gene Expression | Protein S Deficiency - complications | Protein S - genetics | Thrombophilia - physiopathology | Sequence Analysis, DNA | Venous Thromboembolism - etiology | Venous Thromboembolism - genetics | Skin Diseases, Genetic - physiopathology | Venous Thromboembolism - physiopathology | Conjunctivitis - physiopathology | Protein C Deficiency - diagnosis | Aged | Protein C Deficiency - genetics | Conjunctivitis - complications | Protein C - genetics | Protein S Deficiency - diagnosis | Conjunctivitis - diagnosis | Plasminogen - deficiency | Type 2 diabetes | Protein C | Genetic aspects | Research | Nucleotide sequencing | Health aspects | DNA sequencing | Hypertension | Anticoagulants | Stroke | Laboratories | Embolisms | Protein deficiency | Antithrombin | Patients | Thrombosis | Gene sequencing | Proteins | Medicine | Thrombophilia | Protein S | Genetics | Diabetes | Mutation | Thromboembolism | Cardiology | Health risk assessment | Deoxyribonucleic acid--DNA | Veins & arteries | Deoxyribonucleic acid | DNA
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2016, Volume 11, Issue 6, p. e0157279
...: chronic kidney disease, iron deficiency, chronic disease, confirmed myelodysplastic syndrome (MDS... 
IMPACT | UNEXPLAINED ANEMIA | MULTIDISCIPLINARY SCIENCES | RISK | COHORT | QUALITY-OF-LIFE | EQUATION | Anemia, Iron-Deficiency - physiopathology | Anemia - blood | Vitamin B 12 Deficiency - blood | Humans | Middle Aged | Male | Hematologic Tests | Myelodysplastic Syndromes - blood | Renal Insufficiency, Chronic - complications | Anemia, Iron-Deficiency - blood | Anemia - physiopathology | Erythropoietin - blood | Vitamin B 12 Deficiency - complications | Aged, 80 and over | Female | Renal Insufficiency, Chronic - diagnosis | Retrospective Studies | Anemia - etiology | Folic Acid Deficiency - blood | Myelodysplastic Syndromes - physiopathology | Glomerular Filtration Rate | Comorbidity | Vitamin B 12 Deficiency - diagnosis | Anemia - diagnosis | Hemoglobins - metabolism | Linear Models | Vitamin B 12 Deficiency - physiopathology | Biomarkers - blood | Myelodysplastic Syndromes - complications | Renal Insufficiency, Chronic - physiopathology | Folic Acid Deficiency - physiopathology | Renal Insufficiency, Chronic - blood | Myelodysplastic Syndromes - diagnosis | Folic Acid Deficiency - complications | Anemia, Iron-Deficiency - diagnosis | Aged | Folic Acid Deficiency - diagnosis | Chronic Disease | Health sciences | Erythropoietin | Laboratories | Pathogenesis | Medical records | Systematic review | Iron | Vitamin B12 | Epidemiology | Myelodysplastic syndrome | Folic acid | Regression models | Etiology | Older people | Hemoglobin | Chronic illnesses | Nutrient deficiency | Kidneys | Hematology | Epidermal growth factor receptors | Anemia | Mortality | Regression analysis | Patients | Cyanocobalamin | Glomerular filtration rate | Medicine | Hypoxia | Kidney diseases | Electronic health records | Geriatrics
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2010, Volume 53, Issue 6, pp. 1123 - 1134
Autophagy, or cellular self-digestion, is a cellular pathway crucial for development, differentiation, survival, and homeostasis. Its implication in human... 
Gastroenterology and Hepatology | Hepatitis | Starvation | Autophagic vacuole | Hepatocellular carcinoma | Autophagosome | LC3 | Survival | RAT HEPATOCYTES | ALPHA-ANTITRYPSIN DEFICIENCY | ENDOPLASMIC-RETICULUM STRESS | STARVATION-INDUCED AUTOPHAGY | HEPATOCELLULAR-CARCINOMA | HEPATITIS-C VIRUS | INSULIN-RESISTANCE | GASTROENTEROLOGY & HEPATOLOGY | MALLORY-DENK BODIES | INTRACELLULAR INCLUSIONS | MUTANT ALPHA-ANTITRYPSIN-Z | Liver - pathology | Fatty Liver - pathology | Humans | Liver Diseases - pathology | Male | Autophagy - physiology | Liver - physiopathology | Liver Diseases, Alcoholic - physiopathology | Liver Neoplasms - physiopathology | Female | Liver Neoplasms - pathology | alpha 1-Antitrypsin Deficiency - pathology | Liver Diseases, Alcoholic - pathology | Acute Lung Injury - physiopathology | Carcinoma, Hepatocellular - physiopathology | Reperfusion Injury - pathology | Fatty Liver - physiopathology | Acute Lung Injury - pathology | Hepatitis, Viral, Human - pathology | Hepatitis, Viral, Human - physiopathology | Animals | Models, Biological | Carcinoma, Hepatocellular - pathology | Reperfusion Injury - physiopathology | alpha 1-Antitrypsin Deficiency - physiopathology | Mice | Liver Diseases - physiopathology | Proteins | Liver cancer | Leukemia | Lymphomas | Hepatitis C | Hepatitis C virus | Health aspects | Protein kinases
Journal Article
Diabetes, ISSN 0012-1797, 09/2008, Volume 57, Issue 9, pp. 2461 - 2469
Journal Article
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, ISSN 0003-9985, 10/2019, Volume 143, Issue 10, pp. 1281 - 1285
Journal Article
Movement Disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 625 - 636
The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a... 
cerebral palsy | inborn errors of metabolism | spasticity | ataxia | dystonia | DE-NOVO | DEVELOPMENTAL DELAY | MONOAMINE NEUROTRANSMITTER DISORDERS | COPY-NUMBER VARIATIONS | CLINICAL NEUROLOGY | DEHYDROGENASE-DEFICIENCY | BRAIN IMAGING PATTERNS | BIOTINIDASE DEFICIENCY | ATAXIA-TELANGIECTASIA | HYPERKINETIC MOVEMENT-DISORDER | DEFICIENCY SYNDROME | Brain - diagnostic imaging | Monosaccharide Transport Proteins - deficiency | Lesch-Nyhan Syndrome - therapy | Spastic Paraplegia, Hereditary - diagnosis | Humans | Movement Disorders - diagnosis | Folic Acid Deficiency - therapy | Lesch-Nyhan Syndrome - genetics | Cerebral Palsy - diagnosis | Multiple Carboxylase Deficiency - genetics | Carbohydrate Metabolism, Inborn Errors - therapy | Brain Diseases, Metabolic, Inborn - genetics | Dyskinesias - genetics | Folic Acid Deficiency - genetics | Multiple Carboxylase Deficiency - physiopathology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Monosaccharide Transport Proteins - genetics | Chorea - physiopathology | Creatine - genetics | Hyperargininemia - physiopathology | Dyskinesias - physiopathology | Dystonia - physiopathology | Pelizaeus-Merzbacher Disease - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Carbohydrate Metabolism, Inborn Errors - physiopathology | Magnetic Resonance Imaging | Hyperargininemia - diagnosis | Movement Disorders - physiopathology | Dyskinesias - diagnosis | Hyperargininemia - genetics | Ataxia Telangiectasia - genetics | Lesch-Nyhan Syndrome - diagnosis | Brain Diseases, Metabolic, Inborn - therapy | Muscle Spasticity - physiopathology | Movement Disorders - genetics | Multiple Carboxylase Deficiency - diagnosis | Multiple Carboxylase Deficiency - therapy | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Spastic Paraplegia, Hereditary - genetics | Cerebral Palsy - physiopathology | Lesch-Nyhan Syndrome - physiopathology | Mental Retardation, X-Linked - physiopathology | Carbohydrate Metabolism, Inborn Errors - genetics | Brain Diseases, Metabolic, Inborn - diagnosis | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - diagnosis | Hyperargininemia - therapy | Creatine - deficiency | Thyroid Nuclear Factor 1 - genetics | Pelizaeus-Merzbacher Disease - therapy | Spastic Paraplegia, Hereditary - physiopathology | Mental Retardation, X-Linked - therapy | Ataxia Telangiectasia - diagnosis | Ataxia Telangiectasia - physiopathology | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Ataxia - physiopathology | Ataxia Telangiectasia - therapy | Diagnosis, Differential | Pelizaeus-Merzbacher Disease - genetics | Spastic Paraplegia, Hereditary - therapy | Brain Diseases, Metabolic, Inborn - physiopathology | Folic Acid Deficiency - physiopathology | Dyskinesias - therapy | Movement Disorders - therapy | Pelizaeus-Merzbacher Disease - physiopathology | Folic Acid Deficiency - diagnosis | Adenylyl Cyclases - genetics | Cerebral palsy | Development and progression | Medical genetics | Neuroimaging | Genetic counseling | Etiology | Chorea | Spasticity | Ataxia | Dystonia | Children | Paralysis | Neurodevelopmental disorders | Metabolic disorders
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 2013, Volume 33, Issue 50, pp. 19579 - 19589
Journal Article
Movement Disorders, ISSN 0885-3185, 05/2019, Volume 34, Issue 5, pp. 598 - 613
...) and other “omics” approaches has expanded the spectrum of IEM beyond traditional “enzymopathies,“ and a broader definition is that of a deficiency in a metabolic pathway... 
inborn errors of metabolism | treatment | movement disorders | neurotransmitter disorders | neurogenetics | EARLY-ONSET ATAXIA | SUSPICION INDEX | GLUT1 DEFICIENCY | FOLLOW-UP | CEREBROTENDINOUS XANTHOMATOSIS | CLINICAL NEUROLOGY | VITAMIN-E-DEFICIENCY | NIEMANN-PICK-DISEASE | BRAIN MANGANESE ACCUMULATION | ORGANIC ACIDURIAS | BASAL GANGLIA DISEASE | Amino Acid Metabolism, Inborn Errors - complications | Niemann-Pick Disease, Type C - therapy | Hepatolenticular Degeneration - therapy | Monosaccharide Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - physiopathology | Humans | Folic Acid Deficiency - therapy | Hepatolenticular Degeneration - physiopathology | Vitamin E Deficiency - therapy | Dystonic Disorders - complications | Brain Diseases, Metabolic - diagnosis | Vitamin E Deficiency - diagnosis | Xanthomatosis, Cerebrotendinous - diagnosis | Basal Ganglia Diseases - diagnosis | Carbohydrate Metabolism, Inborn Errors - therapy | Dystonia - etiology | Carbohydrate Metabolism, Inborn Errors - diagnosis | Parkinsonian Disorders - physiopathology | Chorea - physiopathology | Dystonia - physiopathology | Metabolic Diseases - diagnosis | Ataxia - diagnosis | Carbohydrate Metabolism, Inborn Errors - physiopathology | Metabolism, Inborn Errors - diagnosis | Folic Acid Deficiency - complications | Movement Disorders - physiopathology | Brain Diseases, Metabolic - physiopathology | Basal Ganglia Diseases - therapy | Ataxia - complications | Muscle Spasticity - physiopathology | Xanthomatosis, Cerebrotendinous - complications | Metabolic Diseases - complications | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology | Brain Diseases, Metabolic - complications | Glutaryl-CoA Dehydrogenase - deficiency | Carbohydrate Metabolism, Inborn Errors - complications | Ataxia - etiology | Hepatolenticular Degeneration - diagnosis | Metabolism, Inborn Errors - therapy | Niemann-Pick Disease, Type C - physiopathology | Parkinsonian Disorders - etiology | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Xanthomatosis, Cerebrotendinous - therapy | Metabolic Diseases - therapy | Metabolic Diseases - physiopathology | Myoclonus - etiology | Vitamin E Deficiency - complications | Niemann-Pick Disease, Type C - diagnosis | Dystonic Disorders - physiopathology | Dystonic Disorders - therapy | Hepatolenticular Degeneration - complications | Vitamin E Deficiency - physiopathology | Ataxia - physiopathology | Ataxia - therapy | Chorea - etiology | Amino Acid Metabolism, Inborn Errors - therapy | Basal Ganglia Diseases - complications | Folic Acid Deficiency - physiopathology | Myoclonus - physiopathology | Muscle Spasticity - etiology | Dystonic Disorders - diagnosis | Basal Ganglia Diseases - physiopathology | Movement Disorders - etiology | Xanthomatosis, Cerebrotendinous - physiopathology | Folic Acid Deficiency - diagnosis | Niemann-Pick Disease, Type C - complications | Dystonic Disorders - etiology | Metabolism, Inborn errors of | Education | Mortality | Finance | Physiological aspects | Creatine | Movement disorders | Energy metabolism | Inborn errors of metabolism | Lysosomal storage diseases | Metabolism | Autophagy | Morbidity | Quality of life | Phenomenology | Psychiatrists | Differential diagnosis | Children | Phagocytosis
Journal Article