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2015, Rare Diseases of the Immune System, ISBN 9783319146157, Volume 3
This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic... 
Medicine | Immunology | Internal medicine | Rheumatology | Human genetics
Web Resource
2015, Rare Diseases of the Immune System, ISBN 9783319146157, Volume 3
This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic... 
Medicine | Immunology | Internal medicine | Rheumatology | Human genetics
Web Resource
Journal Article
Best Practice and Research: Clinical Rheumatology, ISSN 1521-6942, 2014, Volume 28, Issue 2, pp. 263 - 276
Autoinflammatory diseases are characterized by the presence of chronic or recurrent systemic inflammation secondary to abnormal activation of innate immunity... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2018, Volume 378, Issue 20, pp. 1908 - 1919
Journal Article
Cell Reports, ISSN 2211-1247, 06/2013, Volume 3, Issue 6, pp. 1824 - 1831
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
Annals of the Rheumatic Diseases, ISSN 0003-4967, 01/2017, Volume 76, Issue 1, pp. 303 - 309
Journal Article
Pediatrics, ISSN 0031-4005, 10/2009, Volume 124, Issue 4, pp. e721 - e728
Journal Article
03/2015, Rare Diseases of the Immune System, ISBN 3319146149, Volume 3, 166
This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic... 
Periodic peritonitis
eBook
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 12/2012, Volume 71, Issue 12, pp. 1961 - 1965
Journal Article
Pediatric Rheumatology, ISSN 1546-0096, 09/2014, Volume 12, Issue S1, pp. I32 - I32
Journal Article
Rheumatology, ISSN 1462-0324, 07/2018, Volume 57, Issue 7, pp. 1203 - 1211
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2010, Volume 107, Issue 21, pp. 9789 - 9794
Journal Article