Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Muscle phosphofructokinase deficiency.

× No keyword cloud information.

44 in total

Review 1. Animal models of glycogen storage conditions. Their relation to human disease.

Authors: S R Gross
Journal: West J Med Date: 1975-09

2. Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme.

Authors: J Etiemble; A Kahn; P Boivin; J F Bernard; M Goudemand
Journal: Hum Genet Date: 1976-01-28 Impact factor: 4.132

Review 3. Advances in hereditary red cell enzyme anomalies.

Authors: A Kahn; J C Kaplan; J C Dreyfus
Journal: Hum Genet Date: 1979 Impact factor: 4.132

4. Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency.

Authors: C Zimmer; H Altenkirch; S Dorfmüller-Küchlin; D Pongratz; I Paetzke; G Gosztonyi
Journal: J Neurol Date: 1991-02 Impact factor: 4.849

5. Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence.

Authors: R V Lebo; L A Anderson; S DiMauro; E Lynch; P Hwang; R Fletterick
Journal: Hum Genet Date: 1990-11 Impact factor: 4.132

6. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

Authors: R C Nichols; O Rudolphi; B Ek; R Exelbert; P H Plotz; N Raben
Journal: Am J Hum Genet Date: 1996-07 Impact factor: 11.025

Review 7. Muscle cramp: main theories as to aetiology.

Authors: P H Jansen; E M Joosten; H M Vingerhoets
Journal: Eur Arch Psychiatry Neurol Sci Date: 1990

8. Autosomal recessive distal myopathy.

Authors: H Isaacs; M E Badenhorst; T Whistler
Journal: J Clin Pathol Date: 1988-02 Impact factor: 3.411

9. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Authors: O Vasconcelos; K Sivakumar; M C Dalakas; M Quezado; J Nagle; M Leon-Monzon; M Dubnick; D C Gajdusek; L G Goldfarb
Journal: Proc Natl Acad Sci U S A Date: 1995-10-24 Impact factor: 11.205

10. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Authors: J B Sherman; N Raben; C Nicastri; Z Argov; H Nakajima; E M Adams; C M Eng; T M Cowan; P H Plotz
Journal: Am J Hum Genet Date: 1994-08 Impact factor: 11.025