BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 7794557)

  • 1. 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]  

  • 2. Infantile form of muscle phosphofructokinase deficiency in a premature neonate.
    Wu PL; Yang YN; Tey SL; Yang CH; Yang SN; Lin CS
    Pediatr Int; 2015 Aug; 57(4):746-9. PubMed ID: 26108272
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.
    Amit R; Bashan N; Abarbanel JM; Shapira Y; Sofer S; Moses S
    Muscle Nerve; 1992 Apr; 15(4):455-8. PubMed ID: 1533013
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in muscle phosphofructokinase gene.
    Raben N; Sherman JB
    Hum Mutat; 1995; 6(1):1-6. PubMed ID: 7550225
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein.
    Agamanolis DP; Askari AD; Di Mauro S; Hays A; Kumar K; Lipton M; Raynor A
    Muscle Nerve; 1980; 3(6):456-67. PubMed ID: 6450324
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome): a case and family study.
    Fogelfeld L; Sarova-Pinchas I; Meytes D; Barash V; Brok-Simoni F; Feigl D
    Isr J Med Sci; 1990 Jun; 26(6):328-33. PubMed ID: 2380035
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.
    Malfatti E; Birouk N; Romero NB; Piraud M; Petit FM; Hogrel JY; Laforêt P
    J Neurol Sci; 2012 May; 316(1-2):173-7. PubMed ID: 22364848
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Polysaccharide storage myopathy in canine phosphofructokinase deficiency (type VII glycogen storage disease).
    Harvey JW; Calderwood Mays MB; Gropp KE; Denaro FJ
    Vet Pathol; 1990 Jan; 27(1):1-8. PubMed ID: 2137952
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Type VII glycogenosis (muscle and erythrocyte phosphofructokinase deficiency).
    Tarui S; Kono N; Kuwajima M; Ikura Y
    Monogr Hum Genet; 1978; 9():42-7. PubMed ID: 153468
    [No Abstract]   [Full Text] [Related]  

  • 12. Pontocerebellar hypoplasia associated with respiratory-chain defects.
    de Koning TJ; de Vries LS; Groenendaal F; Ruitenbeek W; Jansen GH; Poll-The BT; Barth PG
    Neuropediatrics; 1999 Apr; 30(2):93-5. PubMed ID: 10401692
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.
    Cox PM; Brueton LA; Bjelogrlic P; Pomroy P; Sewry CA
    Pediatr Dev Pathol; 2003; 6(1):59-68. PubMed ID: 12417929
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Late-onset muscle phosphofructokinase deficiency.
    Danon MJ; Servidei S; DiMauro S; Vora S
    Neurology; 1988 Jun; 38(6):956-60. PubMed ID: 2966901
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Spinal muscular atrophy associated with olivopontocerebellar hypoplasia. A case report].
    Serra-Ortega A; Torres A; Segreo M
    Rev Neurol; 2005 Jan 16-31; 40(2):90-2. PubMed ID: 15712162
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Kinetic properties of erythrocyte phosphofructokinase in patients with type VII glycogenosis from two families--close similarity to liver type phosphofructokinase.
    Shimizu T; Kono N; Mineo I; Sumi S; Nonaka K; Tarui S; Koyama W
    J Inherit Metab Dis; 1984; 7(3):107-11. PubMed ID: 6239061
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
    García-Cabezas MA; García-Alix A; Martín Y; Gutiérrez M; Hernández C; Rodríguez JI; Morales C
    Acta Neuropathol; 2004 May; 107(5):475-8. PubMed ID: 14968368
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genetic-morphologic fatal syndromes. Fetal akinesia sequence (Pena-Shokeir syndrome I)].
    Henkel KE; Pfeiffer RA; Stöss H
    Pathologe; 1993 Jul; 14(4):216-8. PubMed ID: 8367387
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.