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Journal Article
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
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
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 11/2016, Volume 68, Issue 11, pp. 2817 - 2824
Journal Article
Journal Article
Rheumatology (United Kingdom), ISSN 1462-0324, 2017, Volume 56, Issue 11, pp. 1918 - 1927
Objective. This report aimed to scrutinize the prevalence of Behcet's disease (BD)-related clinical manifestations based on age- and sex-specific subgroups... 
Behçet's syndrome | Surveys and questionnaires | Diagnosis | Epidemiology | Behcet's syndrome | SYSTEMIC-LUPUS-ERYTHEMATOSUS | METAANALYSIS | INVOLVEMENT | SUSCEPTIBILITY LOCI | diagnosis | RISK | RHEUMATOLOGY | FEATURES | epidemiology | SERUM PROLACTIN LEVELS | surveys and questionnaires | ONSET | GENOME-WIDE ASSOCIATION | Epididymitis - etiology | Genital Diseases, Male - physiopathology | Arthritis - physiopathology | Genital Diseases, Female - etiology | Epididymitis - physiopathology | Age Factors | Gastrointestinal Diseases - physiopathology | Vascular Diseases - etiology | Behcet Syndrome - physiopathology | Genital Diseases, Male - etiology | Humans | Middle Aged | Gastrointestinal Diseases - etiology | Genital Diseases, Female - physiopathology | Male | Oral Ulcer - etiology | Skin Ulcer - etiology | Young Adult | Arthritis - etiology | Adult | Female | Registries | Nervous System Diseases - physiopathology | Odds Ratio | Child | Databases, Factual | Skin Ulcer - physiopathology | Japan | Behcet Syndrome - complications | Eye Diseases - etiology | HLA-B51 Antigen - genetics | Oral Ulcer - physiopathology | Vascular Diseases - physiopathology | Phenotype | Adolescent | Sex Factors | Nervous System Diseases - etiology | Aged | Behcet Syndrome - genetics | Eye Diseases - physiopathology | Index Medicus | Abridged Index Medicus
Journal Article
Chest, ISSN 0012-3692, 2012, Volume 142, Issue 1, pp. 159 - 167
Background: Previous studies of patients with bronchiectasis have found that the cause is idiopathic in the majority of cases, but these studies were done in... 
UNITED-STATES | ADULT PATIENTS | DIAGNOSIS | OBSTRUCTIVE PULMONARY-DISEASE | MANIFESTATION | MORBIDITY | RESPIRATORY SYSTEM | ALPHA-ANTITRYPSIN DEFICIENCY | CONNECTIVE-TISSUE DISEASE | PREVALENCE | VERSUS-HOST-DISEASE | CRITICAL CARE MEDICINE | Sputum - microbiology | United States - epidemiology | Hematologic Neoplasms - ethnology | Pseudomonas aeruginosa - isolation & purification | Autoimmune Diseases - ethnology | Humans | Middle Aged | Aspergillosis, Allergic Bronchopulmonary - complications | Male | Hematologic Neoplasms - epidemiology | European Continental Ancestry Group - ethnology | Arthritis, Rheumatoid - complications | Asian Americans - ethnology | Aged, 80 and over | Adult | Female | Hispanic Americans - ethnology | Retrospective Studies | Hematologic Neoplasms - complications | Aspergillosis, Allergic Bronchopulmonary - epidemiology | Autoimmune Diseases - epidemiology | Arthritis, Rheumatoid - epidemiology | Autoimmune Diseases - complications | Bronchiectasis - ethnology | African Americans - ethnology | Aspergillosis, Allergic Bronchopulmonary - ethnology | Bronchiectasis - epidemiology | Arthritis, Rheumatoid - ethnology | Aged | Radiography, Thoracic | Respiratory Function Tests | Bronchiectasis - etiology | Ethnicity | Demographic aspects | Distribution | Causes of | Bronchiectasis | Research | Health aspects | Index Medicus | Abridged Index Medicus
Journal Article