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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
American Journal of Tropical Medicine and Hygiene, ISSN 0002-9637, 10/2016, Volume 95, Issue 4, pp. 918 - 924
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 11/2015, Volume 74, Issue 11, pp. 2043 - 2049
ObjectiveTo evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry,... 
ARTICULAR SYNDROME | NLRP3 MUTATION | LOW-LEVEL MOSAICISM | SYNDROMES CAPS | GENETIC-HETEROGENEITY | MUCKLE-WELLS-SYNDROME | COLD AUTOINFLAMMATORY SYNDROME | RHEUMATOLOGY | CIAS1 MUTATIONS | AA AMYLOIDOSIS | MULTISYSTEM INFLAMMATORY DISEASE | Arthralgia - etiology | Uveitis - etiology | Conjunctivitis - genetics | Headache - etiology | Exanthema - genetics | Myalgia - genetics | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Child, Preschool | Infant | Male | Papilledema - genetics | Arthritis - genetics | Meningitis - etiology | Exanthema - etiology | Young Adult | Arthritis - etiology | Germ-Line Mutation | Adult | Female | Registries | Retrospective Studies | Arthralgia - genetics | Child | Cryopyrin-Associated Periodic Syndromes - complications | Meningitis - genetics | Severity of Illness Index | Cryopyrin-Associated Periodic Syndromes - genetics | Europe | Genotype | Myalgia - etiology | Hearing Loss, Sensorineural - genetics | Headache - genetics | Cryopyrin-Associated Periodic Syndromes - physiopathology | Carrier Proteins - genetics | Phenotype | Hearing Loss, Sensorineural - etiology | Adolescent | Alleles | Heterozygote | Mutation | Uveitis - genetics | Conjunctivitis - etiology | Cohort Studies | Papilledema - etiology | Complications and side effects | Nervous system diseases | Care and treatment | Research | Cryopyrin-associated periodic syndromes | Studies | Genotype & phenotype | Statistical analysis | Disease | Cold | Meningitis | Family medical history | Hearing impairment | Fever | Chronic illnesses | Index Medicus
Journal Article
JAMA, ISSN 0098-7484, 03/2018, Volume 319, Issue 11, pp. 1125 - 1133
IMPORTANCE: From late 2016 through August 2017, US government personnel serving on diplomatic assignment in Havana, Cuba, reported neurological symptoms... 
CONSISTENCY | MEDICINE, GENERAL & INTERNAL | TRAUMATIC BRAIN-INJURY | INVENTORY | DISORDERS | ILLNESS | VALIDITY | BALANCE | Neuroimaging | Brain - diagnostic imaging | Headache - etiology | United States | Humans | Middle Aged | Somatoform Disorders - rehabilitation | Oculomotor Nerve Diseases - etiology | Sensation Disorders - etiology | Male | Nervous System Diseases - diagnosis | Hearing Loss, Sensorineural - diagnosis | Somatoform Disorders - etiology | Brain Concussion - diagnosis | Adult | Female | Brain Concussion - etiology | Diagnosis, Differential | Government Employees | Nervous System Diseases - rehabilitation | Neuropsychological Tests | Cuba | Hearing Loss, Sensorineural - etiology | Somatoform Disorders - diagnosis | Nervous System Diseases - etiology | Noise - adverse effects | Postural Balance | Neurologic manifestations of general diseases | Brain | Analysis | Public officers | Research | Oculomotor nerve diseases | Health aspects | Risk factors | Injuries | Headache | Audiometry | Cognitive ability | Impairment | Eye movements | Sensory perception | Personnel | Head injuries | Diplomatic facilities | Eye injuries | Vestibular system | Neurological disorders | Audiology | Evaluation | Medical imaging | Public officials | Abnormalities | Pharmacology | Exposure | Trauma | Hearing loss | Neurology | Saccadic eye movements | Smooth pursuit eye movements | Sleep | Vestibulo-ocular reflex | Federal agencies | Rehabilitation | Brain injury | Index Medicus | Abridged Index Medicus | Online First | Preliminary Communication
Journal Article
American Journal of Emergency Medicine, ISSN 0735-6757, 03/2019, Volume 37, Issue 3, pp. 564.e1 - 564.e4
Optochiasmatic cavernoma haemorrhage is unusual etiology of bilateral acute visual impairment. This vascular hamartoma is extremely rare with a prevalence rate... 
EMERGENCY MEDICINE | ANGIOMAS | Causes and theories of causation | Diseases | Headache | Brain | Automation | Compression | Nuclear magnetic resonance--NMR | Impairment | Hemorrhage | Magnetic resonance imaging | Visual impairment | Etiology | Surgery | Conflicts of interest | Diagnosis | Neoplasia | Emergency medical services | Visually handicapped people
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 08/2015, Volume 54, Issue 8, pp. 889 - 897
Journal Article
Medicine, ISSN 0025-7974, 03/2007, Volume 86, Issue 2, pp. 93 - 102
Journal Article
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, ISSN 1319-2442, 01/2015, Volume 26, Issue 1, pp. 168 - 172
Journal Article
Journal Article