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Arthritis & Rheumatology, 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 | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Gut, ISSN 0017-5749, 03/2014, Volume 64, Issue 1, pp. 111 - 120
Journal Article
The Lancet Oncology, ISSN 1470-2045, 05/2018, Volume 19, Issue 5, pp. 705 - 714
Gene fusions involving , or (TRK fusions) are found in a broad range of paediatric and adult malignancies. Larotrectinib, a highly selective small-molecule... 
ONCOLOGY | INFANTILE FIBROSARCOMA | MOLECULAR-DETECTION | RESPONSE ASSESSMENT | ACQUIRED-RESISTANCE | CONGENITAL FIBROSARCOMA | QUALITY-OF-LIFE | KINASE INHIBITOR LOXO-101 | TROPOMYOSIN | SOFT-TISSUE SARCOMA | MESOBLASTIC NEPHROMA | Age Factors | Discoidin Domain Receptor 2 - antagonists & inhibitors | United States | Humans | Receptor, trkA - antagonists & inhibitors | Child, Preschool | Infant | Male | Receptor, trkB - genetics | Antineoplastic Agents - administration & dosage | Protein Kinase Inhibitors - adverse effects | Young Adult | Membrane Glycoproteins - antagonists & inhibitors | Neoplasms - genetics | Time Factors | Antineoplastic Agents - adverse effects | Receptor, trkB - antagonists & inhibitors | Receptor Protein-Tyrosine Kinases - antagonists & inhibitors | Female | Biomarkers, Tumor - antagonists & inhibitors | Child | Discoidin Domain Receptor 2 - genetics | Pyrazoles - adverse effects | Drug Administration Schedule | Administration, Oral | Pyrimidines - administration & dosage | Gene Fusion | Treatment Outcome | Membrane Glycoproteins - genetics | Neoplasms - drug therapy | Protein Kinase Inhibitors - administration & dosage | Pyrazoles - administration & dosage | Receptor Protein-Tyrosine Kinases - genetics | Adolescent | Pyrimidines - adverse effects | Receptor, trkA - genetics | Biomarkers, Tumor - genetics | Neoplasms - pathology | Genetic research | Pediatrics | Analysis
Journal Article
Behavior Genetics, ISSN 0001-8244, 7/2016, Volume 46, Issue 4, pp. 481 - 491
Journal Article
Biological and Pharmaceutical Bulletin, ISSN 0918-6158, 2016, Volume 39, Issue 11, pp. 1852 - 1858
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, p. e48416
Journal Article
Pharmacogenomics Journal, ISSN 1470-269X, 01/2018, Volume 18, Issue 1, pp. 196 - 200
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2017, Volume 12, Issue 11, p. e0187772
Journal Article