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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
Journal Article
Stroke, ISSN 0039-2499, 12/2009, Volume 40, Issue 12, pp. 3745 - 3751
Background and Purpose-To define the detailed spectrum of audiovestibular dysfunction in anterior inferior cerebellar artery territory infarction. Methods-Over... 
Audiovestibular loss | Infarction | Anterior inferior cerebellar artery | VERTIGO | anterior inferior cerebellar artery | MANIFESTATION | infarction | PERIPHERAL VASCULAR DISEASE | BONE | PRODROME | audiovestibular loss | SUDDEN DEAFNESS | DISTURBANCE | CLINICAL NEUROLOGY | FEATURES | Predictive Value of Tests | Prospective Studies | Audiometry | Brain Stem Infarctions - pathology | Cerebellar Diseases - etiology | Humans | Middle Aged | Male | Young Adult | Hearing Loss, Sensorineural - diagnosis | Vertigo - etiology | Cerebellar Diseases - physiopathology | Basilar Artery - physiopathology | Brain Stem - blood supply | Cerebellar Diseases - pathology | Brain Stem - pathology | Aged, 80 and over | Adult | Female | Surveys and Questionnaires | Vestibular Diseases - physiopathology | Vertigo - physiopathology | Brain Stem Infarctions - physiopathology | Vertebrobasilar Insufficiency - pathology | Cerebellum - physiopathology | Vertebrobasilar Insufficiency - complications | Brain Stem Infarctions - complications | Disease Progression | Vestibular Diseases - etiology | Cerebellum - blood supply | Cerebellum - pathology | Radiography | Magnetic Resonance Imaging | Neurologic Examination | Hearing Loss, Sensorineural - etiology | Basilar Artery - pathology | Vertebrobasilar Insufficiency - physiopathology | Aged | Basilar Artery - diagnostic imaging | Brain Stem - physiopathology | Caloric Tests | Vestibular Diseases - diagnosis | Hearing Loss, Sensorineural - physiopathology | Vertigo - diagnosis | Index Medicus
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 3, pp. 264 - 274
Journal Article
Journal Article
Developmental Cell, ISSN 1534-5807, 11/2012, Volume 23, Issue 5, pp. 925 - 938
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1505 - 1512
Journal Article
NEUROLOGY, ISSN 0028-3878, 10/2012, Volume 79, Issue 18, pp. 1898 - 1907
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2011, Volume 121, Issue 7, pp. 2662 - 2667
Journal Article