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2. Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency. Carrier H; Maire I; Vial C; Rambaud G; Flocard F; Flechaire A Acta Neuropathol; 1990; 81(1):84-8. PubMed ID: 2128163 [TBL] [Abstract][Full Text] [Related]
3. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. Ohtani Y; Matsuda I; Iwamasa T; Tamari H; Origuchi Y; Miike T Neurology; 1982 Aug; 32(8):833-8. PubMed ID: 6285226 [TBL] [Abstract][Full Text] [Related]
4. Fatal infantile form of muscle phosphofructokinase deficiency. Servidei S; Bonilla E; Diedrich RG; Kornfeld M; Oates JD; Davidson M; Vora S; DiMauro S Neurology; 1986 Nov; 36(11):1465-70. PubMed ID: 2945125 [TBL] [Abstract][Full Text] [Related]
5. A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. Ohtani Y; Matsuda I; Iwamasa T J Inherit Metab Dis; 1982; 5(2):71-2. PubMed ID: 6820425 [No Abstract] [Full Text] [Related]
6. Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency. Lederer B; Van Hoof F; Van den Berghe G; Hers H Biochem J; 1975 Apr; 147(1):23-35. PubMed ID: 168880 [TBL] [Abstract][Full Text] [Related]
9. [Metabolic myopathies in childhood. A review in summarized form]. Schaub J Monatsschr Kinderheilkd; 1984 Aug; 132(8):566-73. PubMed ID: 6090889 [TBL] [Abstract][Full Text] [Related]
10. [Changes in glycogen metabolism in hereditary muscular diseases (review)]. Rozenfel'd EL Vopr Med Khim; 1986; 32(4):12-20. PubMed ID: 2945316 [TBL] [Abstract][Full Text] [Related]
11. Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation. Iwamasa T; Fukuda S; Tokumitsu S; Ninomiya N; Matsuda I; Osame M Exp Mol Pathol; 1983 Jun; 38(3):405-20. PubMed ID: 6574020 [TBL] [Abstract][Full Text] [Related]
12. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. Akman HO; Sampayo JN; Ross FA; Scott JW; Wilson G; Benson L; Bruno C; Shanske S; Hardie DG; Dimauro S Pediatr Res; 2007 Oct; 62(4):499-504. PubMed ID: 17667862 [TBL] [Abstract][Full Text] [Related]
13. A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase. Mizuta K; Hashimoto E; Tsutou A; Eishi Y; Takemura T; Narisawa K; Yamamura H Biochem Biophys Res Commun; 1984 Mar; 119(2):582-7. PubMed ID: 6424667 [TBL] [Abstract][Full Text] [Related]
14. Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. Bührer C; van Landeghem F; Brück W; Felderhoff-Müser U; Vorgerd M; Obladen M Neuropediatrics; 2000 Apr; 31(2):104-6. PubMed ID: 10832587 [TBL] [Abstract][Full Text] [Related]
15. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Eishi Y; Takemura T; Sone R; Yamamura H; Narisawa K; Ichinohasama R; Tanaka M; Hatakeyama S Hum Pathol; 1985 Feb; 16(2):193-7. PubMed ID: 3918928 [TBL] [Abstract][Full Text] [Related]
16. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816 [TBL] [Abstract][Full Text] [Related]
17. Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency. Shin YS; Plöchl E; Podskarbi T; Muss W; Pilz P; Puttinger R J Inherit Metab Dis; 1994; 17(1):153-5. PubMed ID: 8051930 [No Abstract] [Full Text] [Related]
19. Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis. Pastoris O; Dossena M; Vercesi L; Scelsi R; Torcetta F; Savasta S; Bianchi E Childs Nerv Syst; 1992 Jun; 8(4):237-41. PubMed ID: 1394261 [TBL] [Abstract][Full Text] [Related]
20. Glycogen storage disease in skeletal muscle. Morphological, ultrastructural and biochemical aspects in 10 cases. Cabello A; Benlloch T; Franch O; Feliú JF; Ricoy JR Acta Neuropathol Suppl; 1981; 7():297-300. PubMed ID: 6939256 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]