Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)

Blood Cells, Molecules, and Diseases

Volumn 45, Issue 3, 2010, Pages 219-222

  Mojzikova, Renata ^a   Dolezel, Petr ^a   Pavlicek, Jiri ^a   Mlejnek, Petr ^a   Pospisilova, Dagmar ^a   Divoky, Vladimir ^a  

^a PALACKÝ UNIVERSITY   (Czech Republic)

Author keywords

Glutathione reductase; Riboflavin; Unstable hemoglobin

Indexed keywords

ANTIOXIDANT; ASPARAGINE; FLAVINE ADENINE NUCLEOTIDE; GLUTATHIONE REDUCTASE; HEMOGLOBIN; HEMOGLOBIN HANA; HISTIDINE; RIBOFLAVIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CZECH REPUBLIC; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE PARAMETERS; FAMILY STUDY; FEMALE; GENE MUTATION; GLUTATHIONE METABOLISM; GLUTATHIONE REDUCTASE DEFICIENCY; HEINZ BODY ANEMIA; HEMOGLOBINOPATHY; HEMOLYSIS; HETEROZYGOTE; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN VARIANT; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANEMIA, HEMOLYTIC; FAMILY; FEMALE; FLAVIN-ADENINE DINUCLEOTIDE; GLUTATHIONE; GLUTATHIONE REDUCTASE; HEINZ BODIES; HEMOGLOBINOPATHIES; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MUTATION, MISSENSE; RIBOFLAVIN; VITAMIN B COMPLEX;

EID: 77956870691     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.07.003     Document Type: Article

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