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Arthritis & rheumatology (Hoboken, N.J.), ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
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
Journal Article
Journal Article
Journal of Crohn's and colitis, ISSN 1876-4479, 2016, Volume 10, Issue 3, pp. 239 - 254
Manifestations | Evidence-Based Consensus | Crohn's disease | ECCO | Inflammatory Bowel Disease | European | Extra-intestinal manifestation | Ulcerative colitis | Inflammatory bowel disease | 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 | ECCO Guideline | Consensus Paper | Crohn’s disease
Journal Article
Rheumatology (Oxford, England), ISSN 1462-0332, 2017, Volume 56, Issue 11, pp. 1918 - 1927
Journal Article
Journal Article