BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 9553951)

  • 1. Infantile muscle phosphorylase-b-kinase deficiency. A case report.
    Sahin G; Güngör T; Rettwitz-Volk W; Schlote W; Shin YS; Podskarbi T; Sewell AC
    Neuropediatrics; 1998 Feb; 29(1):48-50. PubMed ID: 9553951
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.
    Taratuto AL; Akman HO; Saccoliti M; Riudavets M; Arakaki N; Mesa L; Sevlever G; Goebel H; DiMauro S
    Neuromuscul Disord; 2010 Dec; 20(12):783-90. PubMed ID: 20833045
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.
    Danon MJ; Carpenter S; Manaligod JR; Schliselfeld LH
    Neurology; 1981 Oct; 31(10):1303-7. PubMed ID: 6213881
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.
    Baussan C; Moatti N; Odievre M; Lemonnier A
    Pediatrics; 1981 Jan; 67(1):107-12. PubMed ID: 6787554
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.
    Regalado JJ; Rodriguez MM; Ferrer PL
    Pediatr Cardiol; 1999; 20(4):304-7. PubMed ID: 10368461
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Muscle phosphorylase b kinase deficiency revisited.
    Echaniz-Laguna A; Akman HO; Mohr M; Tranchant C; Talmant-Verbist V; Rolland MO; Dimauro S
    Neuromuscul Disord; 2010 Feb; 20(2):125-7. PubMed ID: 20080404
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Phosphorylase-kinase deficiency: VI/b type glycogenosis].
    Korányi G; Kovács J
    Orv Hetil; 1979 Sep; 120(38):2305-9. PubMed ID: 293599
    [No Abstract]   [Full Text] [Related]  

  • 12. Fueling around with glycogen: the implications of muscle phosphorylase b kinase deficiency.
    Haller RG
    Neurology; 2008 May; 70(20):1872-3. PubMed ID: 18474841
    [No Abstract]   [Full Text] [Related]  

  • 13. Adult-onset exercise intolerance due to phosphorylase b kinase deficiency.
    Bak H; Cordato D; Carey WF; Milder D
    J Clin Neurosci; 2001 May; 8(3):286-7. PubMed ID: 11386811
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
    Burwinkel B; Hu B; Schroers A; Clemens PR; Moses SW; Shin YS; Pongratz D; Vorgerd M; Kilimann MW
    Eur J Hum Genet; 2003 Jul; 11(7):516-26. PubMed ID: 12825073
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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. Genetic deficiencies of the glycogen phosphorylase system.
    Hendrickx J; Willems PJ
    Hum Genet; 1996 May; 97(5):551-6. PubMed ID: 8655128
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults].
    Bröker HJ; Kuhn E; Fiehn W; Assmus H; Schröder JM
    Schweiz Med Wochenschr; 1981 Jun; 111(23):854-8. PubMed ID: 6791275
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.