A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia

Pediatrics

Volumn 125, Issue 4, 2010, Pages

  Samkan, Ayman ^a   Borzutzky, Arturo ^b,c   Fermo, Elisa ^d   Treaba, Diana O ^a   Dedeoglu, Fatma ^b,c   Altura, Rachel A ^a  

^a BROWN UNIVERSITY   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Congenital dyserythropoietic anemia; Hyperimmunoglobulinemia D syndrome; Mevalonate kinase; Mevalonic aciduria; Periodic fevers

Indexed keywords

ANALGESIC AGENT; C REACTIVE PROTEIN; COLCHICINE; ERYTHROPOIETIN; FERRITIN; HEMOGLOBIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN G; LYMPHOCYTE ANTIGEN; MEVALONATE KINASE; PREDNISONE; TUMOR NECROSIS FACTOR SUPERFAMILY MEMBER 1A; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ANALGESIA; ARTHRALGIA; ARTHRITIS; ARTICLE; BLOATING; BONE MARROW BIOPSY; CASE REPORT; CERVICAL LYMPHADENOPATHY; CHILD; CLINICAL ASSESSMENT; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CONJUNCTIVA DISEASE; CONJUNCTIVAL ERYTHEMA; CONSTIPATION; DIARRHEA; ERYTHROCYTE CONCENTRATE; ERYTHROCYTE SEDIMENTATION RATE; EXON; FACE DYSMORPHIA; FATIGUE; FEMALE; FEVER; GENE SEQUENCE; HEMATOCHEZIA; HEMOGLOBIN BLOOD LEVEL; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HETEROZYGOTE; HOSPITALIZATION; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; KARYOTYPE; LEUKOCYTOSIS; LOW BACK PAIN; MACULOPAPULAR RASH; MEVALONATE KINASE DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PAUCIARTICULAR ARTHRITIS; PERIORBITAL SWELLING; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RASH; RECURRENT FEVER; RETICULOCYTE COUNT; SCHOOL CHILD; SWELLING;

ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; CHILD; FEMALE; HUMANS; MEVALONATE KINASE DEFICIENCY; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 77950567898     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2009-1774     Document Type: Article

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