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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
PLoS Genetics, ISSN 1553-7390, 09/2009, Volume 5, Issue 9, pp. e1000649 - e1000649
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2012, Volume 44, Issue 7, pp. 777 - 782
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 957 - 966
Journal Article
Journal Article
Pain, ISSN 0304-3959, 2004, Volume 109, Issue 1, pp. 8 - 19
Based on a hypothesis that interleukin 1 (IL-1) activity is associated with low back pain (LBP), we investigated relationships between previously described... 
IL-1 gene locus polymorphisms | Disc degeneration | Epidemiology | Low back pain | Physical workload | CYTOKINES | MESSENGER-RNA EXPRESSION | IL-1 | low back pain | LUMBAR DISC DEGENERATION | physical workload | SMOKING | NEUROSCIENCES | CLINICAL NEUROLOGY | epidemiology | BODY-WEIGHT | IN-VITRO | RECEPTOR ANTAGONIST GENE | PLASMA-LEVELS | NITRIC-OXIDE | disc degeneration | ANESTHESIOLOGY | Interleukin-1 - genetics | Low Back Pain - epidemiology | Intervertebral Disc Displacement - complications | Humans | Middle Aged | Magnetic Resonance Imaging - methods | Male | Risk | Cysteine - genetics | Polymerase Chain Reaction - methods | Alanine - genetics | Threonine - genetics | Low Back Pain - genetics | Adult | Surveys and Questionnaires | Low Back Pain - pathology | RNA - metabolism | Glycine - genetics | Genetic Predisposition to Disease - genetics | Intervertebral Disc Displacement - pathology | Genotype | Receptors, Interleukin - genetics | Polymorphism, Genetic | Regression Analysis | Alleles | Lumbar Vertebrae - pathology | Pain Measurement | Finland - epidemiology | Cohort Studies | Index Medicus | Glycine/genetics | Comparative Study | Medical and Health Sciences | Alanine/genetics | Medicin och hälsovetenskap | Receptors; Interleukin/genetics | Genetic Predisposition to Disease/genetics | Magnetic Resonance Imaging/methods | Interleukin-1/genetics | MEDICINE | Low Back Pain/epidemiology/genetics/pathology | RNA/metabolism | Intervertebral Disk Displacement/complications/pathology | Questionnaires | Research Support; Non-U.S. Gov't | Threonine/genetics | Polymorphism; Genetic | Cysteine/genetics | Finland/epidemiology | Polymerase Chain Reaction/methods | MEDICIN | Lumbar Vertebrae/pathology
Journal Article
2004, Progress in pain research and management, ISBN 9780931092510, Volume 28, xiii, 349
Book
Nature, ISSN 0028-0836, 04/2008, Volume 452, Issue 7190, pp. 997 - 1001
Journal Article