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Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Crohn's and Colitis, ISSN 1873-9946, 03/2016, Volume 10, Issue 3, pp. 239 - 254
Inflammatory bowel disease | Crohn's disease | ECCO | Extra-intestinal manifestation | Ulcerative colitis | ulcerative colitis | GASTROENTEROLOGY & HEPATOLOGY | extra-intestinal manifestation | inflammatory bowel disease | Osteoporosis - therapy | Pancreatitis - etiology | Humans | Osteoporosis - diagnosis | Arthritis - diagnosis | Cardiovascular Diseases - therapy | Female Urogenital Diseases - etiology | Male | Lung Diseases - therapy | Nervous System Diseases - diagnosis | Osteoporosis - etiology | Lung Diseases - etiology | Otorhinolaryngologic Diseases - therapy | Skin Diseases - diagnosis | Liver Diseases - etiology | Arthritis - etiology | Female Urogenital Diseases - diagnosis | Male Urogenital Diseases - therapy | Female | Inflammatory Bowel Diseases - complications | Otorhinolaryngologic Diseases - etiology | Cardiovascular Diseases - diagnosis | Cardiovascular Diseases - etiology | Female Urogenital Diseases - therapy | Skin Diseases - therapy | Pancreatitis - therapy | Lung Diseases - diagnosis | Eye Diseases - etiology | Liver Diseases - therapy | Cholangitis, Sclerosing - etiology | Male Urogenital Diseases - diagnosis | Eye Diseases - diagnosis | Nervous System Diseases - therapy | Pancreatitis - diagnosis | Skin Diseases - etiology | Male Urogenital Diseases - etiology | Cholangitis, Sclerosing - therapy | Nervous System Diseases - etiology | Liver Diseases - diagnosis | Cholangitis, Sclerosing - diagnosis | Arthritis - therapy | Otorhinolaryngologic Diseases - diagnosis | Eye Diseases - therapy | Index Medicus | ECCO Guideline | Consensus Paper | Crohn’s disease
Journal Article
BMJ, ISSN 0959-8138, 8/2017, Volume 358, pp. j3448 - j3448
Journal Article
European Heart Journal, ISSN 0195-668X, 05/2015, Volume 36, Issue 17, pp. 1049 - 1058
Journal Article
Current Diabetes Reviews, ISSN 1573-3998, 01/2019, Volume 15, Issue 3, p. 171
Journal Article
Cancer biology & therapy, ISSN 1538-4047, 2002
Journal
Journal of Science and Medicine in Sport, ISSN 1440-2440, 11/2017, Volume 20, pp. S39 - S40
Journal Article
Journal of Clinical Periodontology, ISSN 0303-6979, 06/2018, Volume 45, Issue S19, pp. 513 - 513
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2015, Volume 74, Issue 6, pp. 1011 - 1018
Objectives To assess the prevalence of the main causes of morbi-mortality in the antiphospholipid syndrome (APS) during a 10-year-follow-up period and to... 
Systemic Lupus Erythematosus | Antiphospholipid Syndrome | SYSTEMIC-LUPUS-ERYTHEMATOSUS | MANAGEMENT | SERIES | FOLLOW-UP | Anticardiolipin Antibodies | ARTERIAL THROMBOSIS | RHEUMATOLOGY | FEATURES | INTERNATIONAL CONSENSUS STATEMENT | Autoimmune Diseases | COHORT | DISEASE EXPRESSION | CLASSIFICATION CRITERIA | Antiphospholipid Antibodies | Antiphospholipid Syndrome - mortality | Lupus Erythematosus, Systemic - complications | Prospective Studies | Humans | Middle Aged | Child, Preschool | Infant | Male | Lupus Erythematosus, Systemic - mortality | Antiphospholipid Syndrome - complications | Epilepsy - etiology | Infection - etiology | Pregnancy Outcome - epidemiology | Young Adult | Abortion, Spontaneous - epidemiology | Antiphospholipid Syndrome - epidemiology | Ischemic Attack, Transient - etiology | Livedo Reticularis - etiology | Aged, 80 and over | Adult | Female | Stroke - mortality | Child | Infant, Newborn | Thrombocytopenia - etiology | Fetal Growth Retardation - epidemiology | Venous Thrombosis - mortality | Infection - mortality | Premature Birth - epidemiology | Venous Thrombosis - etiology | Pregnancy | Pulmonary Embolism - mortality | Stroke - etiology | Pulmonary Embolism - etiology | Thrombosis - etiology | Adolescent | Aged | Thrombosis - mortality | Longitudinal Studies | Cohort Studies | Care and treatment | Patient outcomes | Analysis | Mortality | Risk factors | Morbidity | Antiphospholipid syndrome | Lupus | Anticoagulants | Heart attacks | Index Medicus | Life Sciences | Human health and pathology | Rhumatology and musculoskeletal system
Journal Article
Clinical Oral Implants Research, ISSN 0905-7161, 10/2017, Volume 28, Issue S14, pp. 259 - 259
Journal Article
American Journal of Tropical Medicine and Hygiene, ISSN 0002-9637, 10/2016, Volume 95, Issue 4, pp. 918 - 924
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ObjectiveTo evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry,... 
ARTICULAR SYNDROME | NLRP3 MUTATION | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | RHEUMATOLOGY | CIAS1 MUTATIONS | AA AMYLOIDOSIS | MULTISYSTEM INFLAMMATORY DISEASE | Arthralgia - etiology | Uveitis - etiology | Conjunctivitis - genetics | Headache - etiology | Exanthema - genetics | Myalgia - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Child, Preschool | Infant | Male | Papilledema - genetics | Arthritis - genetics | Meningitis - etiology | Exanthema - etiology | Young Adult | Arthritis - etiology | Germ-Line Mutation | Adult | Female | Registries | Retrospective Studies | Arthralgia - genetics | Child | Cryopyrin-Associated Periodic Syndromes - complications | Meningitis - genetics | Severity of Illness Index | Cryopyrin-Associated Periodic Syndromes - genetics | Europe | Genotype | Myalgia - etiology | Hearing Loss, Sensorineural - genetics | Headache - genetics | Cryopyrin-Associated Periodic Syndromes - physiopathology | Carrier Proteins - genetics | Phenotype | Hearing Loss, Sensorineural - etiology | Adolescent | Alleles | Heterozygote | Mutation | Uveitis - genetics | Conjunctivitis - etiology | Cohort Studies | Papilledema - etiology | Complications and side effects | Nervous system diseases | Care and treatment | Research | Cryopyrin-associated periodic syndromes | Studies | Genotype & phenotype | Statistical analysis | Disease | Cold | Meningitis | Family medical history | Hearing impairment | Fever | Chronic illnesses | Index Medicus
Journal Article