A novel G6PC3 gene mutation in a patient with severe congenital neutropenia

Journal of Pediatric Hematology/Oncology

Volumn 35, Issue 2, 2013, Pages

  Aytekin, Caner ^a   Germeshausen, Manuela ^b   Tuygun, Nilden ^a   Dogu, Figen ^c   Ikinciogullari, Aydan ^c  

^a Children Training and Research Hospital   (Turkey)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c ANKARA UNIVERSITY   (Turkey)

Author keywords

dyslipidemia; G6PC3; myelokathexis; recurrent infections; severe congenital neutropenia

Indexed keywords

GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3; GRANULOCYTE COLONY STIMULATING FACTOR; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; IRON; LOW DENSITY LIPOPROTEIN CHOLESTEROL; UNCLASSIFIED DRUG;

ADOLESCENT; ANAMNESIS; ANTIBIOTIC PROPHYLAXIS; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CELL VACUOLE; CHOLESTEROL BLOOD LEVEL; DEPRESSED NASAL BRIDGE WITH UPTURNED NOSE; DEVELOPMENTAL DISORDER; DYSLIPIDEMIA; ECHOCARDIOGRAPHY; EMPERIPOLESIS; ERYTHROCYTE COUNT; FACE MALFORMATION; FEMALE; FRONTAL BOSSING; G6PC3 GENE; GENE MUTATION; GINGIVITIS; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3 DEFICIENCY; GLYCOGEN STORAGE DISEASE TYPE 1; GROWTH DISORDER; HEMOGLOBIN BLOOD LEVEL; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; IRON DEFICIENCY ANEMIA; LEARNING DISORDER; MEAN CORPUSCULAR VOLUME; MITRAL VALVE REGURGITATION; NEUTROPHIL COUNT; PATHOPHYSIOLOGY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETROGNATIA; SEVERE CONGENITAL NEUTROPENIA; SKIN EXAMINATION; THROMBOCYTE COUNT; URINARY TRACT INFECTION;

ADOLESCENT; FEMALE; GLUCOSE-6-PHOSPHATASE; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; MUTATION; NEUTROPENIA;

EID: 84874481719     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3182679000     Document Type: Article

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