BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

83 related articles for article (PubMed ID: 155429)

  • 1. [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]  

  • 2. 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]  

  • 3. [Congenital muscular dystrophy. Apropos of 4 cases].
    Posada IJ; Molina JA; Ramo C; Cabello A; Mateos F
    An Esp Pediatr; 1988 Feb; 28(2):157-60. PubMed ID: 3281538
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. [Muscular glycogenesis and haemolytic anaemia due to enzyme deficiency in two siblings. Familial form of Tarui's disease due to a deficiency in muscular and erythrocytic phosphofructokinase (author's transl)].
    Dupond JL; Robert M; Carbillet JP; Leconte des Floris R
    Nouv Presse Med; 1977 Sep; 6(30):2665-8. PubMed ID: 143654
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. [Congenital atonic-sclerotic muscular dystrophy (Ullrich disease)].
    Fernández M; Pacheco M; Garaizar C; Prats JM
    Neurologia; 1991; 6(7):259-62. PubMed ID: 1768446
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
    Romero NB; Tomé FM; Leturcq F; el Kerch FE; Azibi K; Bachner L; Anderson RD; Roberds SL; Campbell KP; Fardeau M
    C R Acad Sci III; 1994 Jan; 317(1):70-6. PubMed ID: 7987694
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
    Fardeau M; Tomé FM; Helbling-Leclerc A; Evangelista T; Ottolini A; Chevallay M; Barois A; Estournet B; Harpey JP; Fauré S; Guicheney P; Hillaire D
    Rev Neurol (Paris); 1996 Jan; 152(1):11-9. PubMed ID: 8729391
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. [Congenital muscular dystrophy with laminin-a2 deficiency in early infancy: diagnosis and long-term follow-up].
    Panteliadis C; Karatza E; Xinias I; Flaris N; Tzitiridou M; Ramantani G
    Klin Padiatr; 2005; 217(5):281-5. PubMed ID: 16167276
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Becker and Duchenne muscular dystrophy: a comparative morphological study.
    Dennett X; Shield LK; Clingan LJ; Woolley DA
    Aust Paediatr J; 1988; 24 Suppl 1():15-20. PubMed ID: 3202735
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
    Taniguchi M; Kurahashi H; Noguchi S; Sese J; Okinaga T; Tsukahara T; Guicheney P; Ozono K; Nishino I; Morishita S; Toda T
    Biochem Biophys Res Commun; 2006 Apr; 342(2):489-502. PubMed ID: 16487936
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Maturational defect of regenerating muscle fibers in cases with Duchenne and congenital muscular dystrophies.
    Miike T
    Muscle Nerve; 1983 Oct; 6(8):545-52. PubMed ID: 6196637
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
    Murakami T; Nishino I
    Brain Nerve; 2008 Oct; 60(10):1159-64. PubMed ID: 18975603
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hypoxanthine-guanine phosphoribosyltransferase activity of blood and muscle in Duchenne dystrophy.
    Neerunjun JS; Allsop J; Dubowitz V
    Muscle Nerve; 1979; 2(1):19-23. PubMed ID: 545141
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle.
    Tani K; Fujii H; Miwa S; Imanaka F; Kuramoto A; Ishikawa H
    Tohoku J Exp Med; 1983 Nov; 141(3):287-93. PubMed ID: 6228037
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers].
    Nagaura T; Sumi K; Nonaka I
    Rinsho Shinkeigaku; 1990 Apr; 30(4):432-8. PubMed ID: 2387114
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Polysaccharide amylopectin-type storage myopathy].
    Calore EE; Pellissier JF; Figarella-Branger D; de Barsy T; Pouget J; Serratrice G
    Rev Neurol (Paris); 1992; 148(11):696-703. PubMed ID: 1303560
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase].
    Nishimura M; Miyamoto K; Motoyoshi Y; Sugie H; Tanabe H
    Rinsho Shinkeigaku; 1991 Apr; 31(4):383-90. PubMed ID: 1914322
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.