First description of phosphofructokinase deficiency in spain: Identification of a novel homozygous missense mutation in the PFKM gene

Frontiers in Physiology

Volumn 4 DEC, Issue , 2013, Pages

  Vives Corrons, Joan Lluis ^a   Koralkova, Pavla ^b   Grau, Josep M ^a   Pereira, Maria del Mar Mañú ^a   Van Wijk, Richard ^c  

^a HOSPITAL CLÍNIC   (Spain)

^b PALACKÝ UNIVERSITY   (Czech Republic)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Enzyme catalysis; Glycogen storage disease; Missense mutation; PFKM gene; Phosphofructokinase deficiency

Indexed keywords

6 PHOSPHOFRUCTOKINASE; 6 PHOSPHOFRUCTOKINASE ISOENZYME M; ASPARTIC ACID; DNA; GLYCINE;

AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CELL COUNT; CASE REPORT; CATALYSIS; DARK URINE; DNA SEQUENCE; ENZYME ACTIVITY; ERYTHROCYTE DISORDER; FEMALE; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE; HEMOLYTIC ANEMIA; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MEGALOCYTOSIS; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE SPASM; MUSCLE WEAKNESS; MYOGLOBINURIA; PFKM GENE; PHOSPHOFRUCTOKINASE DEFICIENCY; PHYSICAL EXAMINATION; SPLENOMEGALY; URINE COMPOSITION DISORDER;

EID: 84891692077     PISSN: None     EISSN: 1664042X     Source Type: Journal    
DOI: 10.3389/fphys.2013.00393     Document Type: Article

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