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2. Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation. Sivakumar K; Vasconcelos O; Goldfarb L; Dalakas MC Neurology; 1996 May; 46(5):1337-42. PubMed ID: 8628478 [TBL] [Abstract][Full Text] [Related]
3. Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder? Argov Z; Barash V; Soffer D; Sherman J; Raben N Neurology; 1994 Jun; 44(6):1097-100. PubMed ID: 8208408 [TBL] [Abstract][Full Text] [Related]
5. Muscle phosphofructokinase deficiency in two generations. Vorgerd M; Karitzky J; Ristow M; Van Schaftingen E; Tegenthoff M; Jerusalem F; Malin JP J Neurol Sci; 1996 Sep; 141(1-2):95-9. PubMed ID: 8880699 [TBL] [Abstract][Full Text] [Related]
6. Inherited phosphofructokinase deficiency in an American cocker spaniel. Giger U; Smith BF; Woods CB; Patterson DF; Stedman H J Am Vet Med Assoc; 1992 Nov; 201(10):1569-71. PubMed ID: 1289336 [TBL] [Abstract][Full Text] [Related]
7. A genetic defect in muscle phosphofructokinase deficiency, a typical clinical entity presenting myogenic hyperuricemia. Nakajima H; Kono N; Yamasaki T; Hotta K; Kawachi M; Hamaguchi T; Nishimura T; Mineo I; Kuwajima M; Noguchi T Adv Exp Med Biol; 1991; 309B():141-4. PubMed ID: 1838230 [No Abstract] [Full Text] [Related]
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. Vasconcelos O; Sivakumar K; Dalakas MC; Quezado M; Nagle J; Leon-Monzon M; Dubnick M; Gajdusek DC; Goldfarb LG Proc Natl Acad Sci U S A; 1995 Oct; 92(22):10322-6. PubMed ID: 7479776 [TBL] [Abstract][Full Text] [Related]
10. Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. Baerlocher KE; Steinmann B; Aguzzi A; Krähenbühl S; Roe CR; Vianey-Saban C J Inherit Metab Dis; 1997 Jul; 20(3):427-31. PubMed ID: 9266373 [No Abstract] [Full Text] [Related]
11. [On progressive myopathy with muscle phosphorylase deficiency and giant mitochondria]. Sluga E; Seitelberger F; Moser K Wien Klin Wochenschr; 1967 Dec; 79(49):917-21. PubMed ID: 4231954 [No Abstract] [Full Text] [Related]
12. Inherited phosphofructokinase deficiency associated with hemolysis and exertional myopathy. Rudolphi O; Ek B; Ronquist G Eur J Haematol; 1995 Oct; 55(4):279-81. PubMed ID: 7589351 [No Abstract] [Full Text] [Related]
13. Improvement of hemolysis in muscle phosphofructokinase deficiency by restriction of exercise. Toyoda H; Nakase T; Tomeoku M; Morita K; Kato M; Murata T; Ono A; Kuwajima M; Kono N Intern Med; 1996 Mar; 35(3):222-6. PubMed ID: 8785459 [TBL] [Abstract][Full Text] [Related]
14. [Hereditary metabolic muscular diseases caused by demonstrable enzyme defect]. Kuhn E Dtsch Med Wochenschr; 1980 Oct; 105(42):1469-73. PubMed ID: 6450673 [No Abstract] [Full Text] [Related]
15. Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency. Tarui S; Kono N; Nasu T; Nishikawa M Biochem Biophys Res Commun; 1969 Jan; 34(1):77-83. PubMed ID: 4236975 [No Abstract] [Full Text] [Related]
16. Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). Raben N; Sherman JB; Adams E; Nakajima H; Argov Z; Plotz P Muscle Nerve Suppl; 1995; 3():S35-8. PubMed ID: 7603525 [TBL] [Abstract][Full Text] [Related]
17. A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis. Nakagawa C; Mineo I; Kaido M; Fujimura H; Shimizu T; Hamaguchi T; Nakajima H; Tarui S Muscle Nerve Suppl; 1995; 3():S39-44. PubMed ID: 7603526 [TBL] [Abstract][Full Text] [Related]
18. Disorders of glycogen metabolism of muscle. DiMauro S; Bresolin N; Hays AP CRC Crit Rev Clin Neurobiol; 1984; 1(2):83-116. PubMed ID: 6242726 [TBL] [Abstract][Full Text] [Related]