Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency

Pediatrics

Volumn 129, Issue 2, 2012, Pages

  Gomez, Angeles Ruiz ^a   Couce, María Luz ^b   Garcia Villoria, Judit ^c   Torres, Angeles ^a,e   Souto, Ana Baña ^b   Yagüe, Jordi ^c   Vilaseca, María Antonia ^d   Ribes, Antonia ^c   Aróstegui, Juan I ^c  

^a HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^b Instituto de Salud Carlos III   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e SINGLETON HOSPITAL   (United Kingdom)

Author keywords

Anti IL 1 therapy; Autoinflammatory diseases; HIDS; Hyper IgD and periodic fever; Metabolic diseases; Mevalonate kinase deficiency; Mevalonic aciduria

Indexed keywords

ALPHA TOCOPHEROL; ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; ASCORBIC ACID; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SIMVASTATIN; UBIDECARENONE;

ARTICLE; ATAXIA; BLOOD TRANSFUSION; BODY WEIGHT; BRAIN ATROPHY; CASE REPORT; CATARACT; CATARACT EXTRACTION; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; ECHOGRAPHY; FACE MALFORMATION; FAILURE TO THRIVE; FOLLOW UP; FRONTAL BOSSING; HEAD CIRCUMFERENCE; HEPATOSPLENOMEGALY; HUMAN; INTRAUTERINE GROWTH RETARDATION; LYMPHADENOPATHY; MALE; MEVALONATE KINASE DEFICIENCY; MUSCLE HYPOTONIA; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RASH; SCHOOL CHILD; TREATMENT OUTCOME; VISUAL IMPAIRMENT; VOMITING;

ALLELES; BRAIN; CEREBELLAR ATAXIA; CEREBELLUM; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FAILURE TO THRIVE; FEVER OF UNKNOWN ORIGIN; GENES, RECESSIVE; GENETIC VARIATION; GENOTYPE; HUMANS; INFANT; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MAGNETIC RESONANCE IMAGING; MALE; MEVALONATE KINASE DEFICIENCY; MEVALONIC ACID; MYOCLONIC CEREBELLAR DYSSYNERGIA; PHENOTYPE; PSYCHOMOTOR DISORDERS;

EID: 84856551102     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2010-2192     Document Type: Article

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