BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 9327403)

  • 1. Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'.
    Rubio JC; Martín MA; Bautista J; Campos Y; Segura D; Arenas J
    Neuromuscul Disord; 1997 Sep; 7(6-7):387-9. PubMed ID: 9327403
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.
    Tsujino S; Shanske S; Carroll JE; Sabina RL; DiMauro S
    Neuromuscul Disord; 1995 Jul; 5(4):263-6. PubMed ID: 7580237
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
    Bruno C; Minetti C; Shanske S; Morreale G; Bado M; Cordone G; DiMauro S
    Neurology; 1998 Jan; 50(1):296-8. PubMed ID: 9443500
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Myophosphorylase deficiency: an unusually severe form with myoglobinuria.
    Kristjánsson K; Tsujino S; DiMauro S
    J Pediatr; 1994 Sep; 125(3):409-10. PubMed ID: 8071750
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.
    Gross M
    J Inherit Metab Dis; 1997 Jun; 20(2):186-92. PubMed ID: 9211191
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myoadenylate deaminase deficiency with severe rhabdomyolysis.
    Baumeister FA; Gross M; Wagner DR; Pongratz D; Eife R
    Eur J Pediatr; 1993 Jun; 152(6):513-5. PubMed ID: 8335021
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
    Gross M; Rötzer E; Kölle P; Mortier W; Reichmann H; Goebel HH; Lochmüller H; Pongratz D; Mahnke-Zizelman DK; Sabina RL
    Neuromuscul Disord; 2002 Aug; 12(6):558-65. PubMed ID: 12117480
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.
    Teijeira S; San Millán B; Fernández JM; Rivas E; Viéitez I; Miranda S; González F; Navarro C
    Clin Neuropathol; 2009; 28(2):136-42. PubMed ID: 19353846
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise].
    Pantoja-Martínez J; Navarro Fernández-Balbuena C; Gormaz-Moreno M; Quintans-Castro B; Esparza-Sánchez MA; Bonet-Arzo J
    Rev Neurol; 2004 Sep 1-15; 39(5):431-4. PubMed ID: 15378456
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Rhabdomyolysis and myoglobinuria].
    Lindner A; Zierz S
    Nervenarzt; 2003 Jun; 74(6):505-15. PubMed ID: 12799789
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutant carnitine palmitoyltransferase associated with myoadenylate deaminase deficiency in skeletal muscle.
    Reuschenbach C; Zierz S
    J Pediatr; 1988 Apr; 112(4):600-3. PubMed ID: 3351687
    [No Abstract]   [Full Text] [Related]  

  • 12. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
    Bruno C; Manfredi G; Andreu AL; Shanske S; Krishna S; Ilse WK; DiMauro S
    Biochem Biophys Res Commun; 1998 Aug; 249(3):648-51. PubMed ID: 9731190
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.
    Fischer S; Drenckhahn C; Wolf C; Eschrich K; Kellermann S; Froster UG; Schober R
    Clin Neuropathol; 2005; 24(2):77-85. PubMed ID: 15803807
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A point mutation responsible for human erythrocyte AMP deaminase deficiency.
    Yamada Y; Goto H; Ogasawara N
    Hum Mol Genet; 1994 Feb; 3(2):331-4. PubMed ID: 8004104
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Hereditary metabolic muscular diseases caused by demonstrable enzyme defect].
    Kuhn E
    Dtsch Med Wochenschr; 1980 Oct; 105(42):1469-73. PubMed ID: 6450673
    [No Abstract]   [Full Text] [Related]  

  • 16. Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
    Abe M; Higuchi I; Morisaki H; Morisaki T; Osame M
    Neuromuscul Disord; 2000 Oct; 10(7):472-7. PubMed ID: 10996775
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy.
    Martinuzzi A; Tsujino S; Vergani L; Schievano G; Cadaldini M; Bartoloni L; Fanin M; Siciliano G; Shanske S; DiMauro S; Angelini C
    J Neurol Sci; 1996 Apr; 137(1):14-9. PubMed ID: 9120482
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.
    Castro-Gago M; Gómez-Lado C; Pérez-Gay L; Eirís-Puñal J; Martínez EP; García-Consuegra I; Martín MA
    J Child Neurol; 2011 Jun; 26(6):734-7. PubMed ID: 21343608
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Normal restriction pattern (Hind III) of the myoadenylate deaminase gene in enzyme deficient patients.
    Gross M; Morisaki T; Pongratz D; Holmes EW; Zöllner N
    Klin Wochenschr; 1990 Nov; 68(21):1084. PubMed ID: 2084323
    [No Abstract]   [Full Text] [Related]  

  • 20. Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain.
    Rubio JC; Martín MA; Bautista J; Campos Y; Segura D; Cabello A; Chinchón I; Arenas J
    J Neurol Sci; 1998 Dec; 161(2):110-3. PubMed ID: 9879690
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.