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26. Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. Elleder M; Shin YS; Zuntová A; Vojtovic P; Chalupecký V Virchows Arch A Pathol Anat Histopathol; 1993; 423(4):303-7. PubMed ID: 8236826 [TBL] [Abstract][Full Text] [Related]
27. Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle. Madlom M; Besley GT; Cohen PT; Marrian VJ Eur J Pediatr; 1989 Oct; 149(1):52-3. PubMed ID: 2606129 [TBL] [Abstract][Full Text] [Related]
28. [Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]. Guibaud P; Carrier H; Mathieu M; Dorche C; Parchoux B; Béthenod M; Larbre F Arch Fr Pediatr; 1978 Dec; 35(10):1105-15. PubMed ID: 155429 [TBL] [Abstract][Full Text] [Related]
29. [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]
30. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Burwinkel B; Maichele AJ; Aagenaes O; Bakker HD; Lerner A; Shin YS; Strachan JA; Kilimann MW Hum Mol Genet; 1997 Jul; 6(7):1109-15. PubMed ID: 9215682 [TBL] [Abstract][Full Text] [Related]
31. Disturbances in the activity of phosphorylase-b-kinase in a case of McArdle myopathy. Strugalska-Cynowska M Folia Histochem Cytochem (Krakow); 1967; 5(2):151-6. PubMed ID: 5235153 [No Abstract] [Full Text] [Related]
34. 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]
35. Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. Sanjad SA; Kaddoura RE; Nazer HM; Akhtar M; Sakati NA Am J Dis Child; 1993 Sep; 147(9):957-9. PubMed ID: 8362811 [TBL] [Abstract][Full Text] [Related]
36. A new variant of glycogen storage disease. Type IXc. Lerner A; Iancu TC; Bashan N; Potashnik R; Moses S Am J Dis Child; 1982 May; 136(5):406-10. PubMed ID: 6952760 [TBL] [Abstract][Full Text] [Related]
37. Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle. Askanas V; Engel WK; DiMauro S; Brooks BR; Mehler M N Engl J Med; 1976 Mar; 294(11):573-8. PubMed ID: 1060914 [TBL] [Abstract][Full Text] [Related]
38. Adult phosphorylase b kinase deficiency. Clemens PR; Yamamoto M; Engel AG Ann Neurol; 1990 Oct; 28(4):529-38. PubMed ID: 2252364 [TBL] [Abstract][Full Text] [Related]
39. Fetal akinesia sequence caused by glycogenosis type VII. Moerman P; Lammens M; Fryns JP; Lemmens F; Lauweryns JM Genet Couns; 1995; 6(1):15-20. PubMed ID: 7794557 [TBL] [Abstract][Full Text] [Related]
40. A biochemical and ultrastructural study of liver, muscle, heart and kidney in type II glycogenosis. Bruni CB; Paluello FM Virchows Arch B Cell Pathol; 1970; 4(3):196-207. PubMed ID: 4983073 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]