Muscle phosphofructokinase deficiency in two generations

Journal of the Neurological Sciences

Volumn 141, Issue 1-2, 1996, Pages 95-99

  Vorgerd, M ^a   Karitzky, J ^b   Ristow, M ^c   Van Schaftingen, E ^d   Tegenthoff, M ^a   Jerusalem, F ^b   Malin, J P ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d Intl Inst Molec Cell Pathol C   (Belgium)

Author keywords

Genetic analysis; Glycogenosis type VII; PFK; PFK M; Phosphofructokinase deficiency; Tarui's disease

Indexed keywords

6 PHOSPHOFRUCTOKINASE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; ENZYME DEFICIENCY; ERYTHROCYTE; GLYCOGEN SYNTHESIS; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030587554     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(96)00131-1     Document Type: Article

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