BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 7668832)

  • 1. Genotype-phenotype correlation in adult-onset acid maltase deficiency.
    Wokke JH; Ausems MG; van den Boogaard MJ; Ippel EF; van Diggelene O; Kroos MA; Boer M; Jennekens FG; Reuser AJ; Ploos van Amstel HK
    Ann Neurol; 1995 Sep; 38(3):450-4. PubMed ID: 7668832
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M; Puech JP; Letourneur F; Fardeau M; Kahn A; Poenaru L
    Biochem Biophys Res Commun; 1997 Jun; 235(1):138-41. PubMed ID: 9196050
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
    Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
    Hermans MM; van Leenen D; Kroos MA; Beesley CE; Van Der Ploeg AT; Sakuraba H; Wevers R; Kleijer W; Michelakakis H; Kirk EP; Fletcher J; Bosshard N; Basel-Vanagaite L; Besley G; Reuser AJ
    Hum Mutat; 2004 Jan; 23(1):47-56. PubMed ID: 14695532
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
    Hermans MM; Kroos MA; Smeitink JA; van der Ploeg AT; Kleijer WJ; Reuser AJ
    Hum Mutat; 1998; 11(3):209-15. PubMed ID: 9521422
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI; Kroos MA; Reuser AJ; Hatcher E; Akhtar M; McCready ME; Tarnopolsky MA
    Gene; 2014 Mar; 537(1):41-5. PubMed ID: 24384324
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
    Anneser JM; Pongratz DE; Podskarbi T; Shin YS; Schoser BG
    Neurology; 2005 Jan; 64(2):368-70. PubMed ID: 15668445
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
    Schoser BG; Müller-Höcker J; Horvath R; Gempel K; Pongratz D; Lochmüller H; Müller-Felber W
    Neuropathol Appl Neurobiol; 2007 Oct; 33(5):544-59. PubMed ID: 17573812
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
    Shieh JJ; Lin CY
    Biochem Biophys Res Commun; 1996 Feb; 219(2):322-6. PubMed ID: 8604985
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
    Hermans MM; Kroos MA; de Graaff E; Oostra BA; Reuser AJ
    Hum Mutat; 1993; 2(4):268-73. PubMed ID: 8401535
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].
    Castro-Gago M; Eirís-Puñal J; Rodríguez-Núñez A; Pintos-Martínez E; Benlloch-Marín T; Barros-Angueira F
    Rev Neurol; 1999 Jul 1-15; 29(1):46-9. PubMed ID: 10528311
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
    Verloes A; Massin M; Lombet J; Grattagliano B; Soyeur D; Rigo J; Koulischer L; Van Hoof F
    Am J Med Genet; 1997 Oct; 72(2):135-42. PubMed ID: 9382133
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
    Montalvo AL; Cariati R; Deganuto M; Guerci V; Garcia R; Ciana G; Bembi B; Pittis MG
    Mol Genet Metab; 2004 Mar; 81(3):203-8. PubMed ID: 14972326
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
    Kroos MA; Van der Kraan M; Van Diggelen OP; Kleijer WJ; Reuser AJ
    Hum Mutat; 1997; 9(1):17-22. PubMed ID: 8990003
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Two autopsy cases of adult-type acid maltase deficiency with vacuolation of cerebral arterial walls].
    Matsuoka Y; Hirayama M; Senda Y; Matsui T
    Rinsho Shinkeigaku; 1985 Jan; 25(1):39-45. PubMed ID: 3922655
    [No Abstract]   [Full Text] [Related]  

  • 16. Late-onset acid maltase deficiency in a Chinese girl.
    Wong KS; Lai C; Ng HK
    Clin Exp Neurol; 1991; 28():210-8. PubMed ID: 1821829
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
    van der Beek NA; Soliman OI; van Capelle CI; Geleijnse ML; Vletter WB; Kroos MA; Reuser AJ; Frohn-Mulder IM; van Doorn PA; van der Ploeg AT
    J Neurol Sci; 2008 Dec; 275(1-2):46-50. PubMed ID: 18757064
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome.
    Kostera-Pruszczyk A; Opuchlik A; Lugowska A; Nadaj A; Bojakowski J; Tylki-Szymanska A; Kaminska A
    Neuromuscul Disord; 2006 Apr; 16(4):282-5. PubMed ID: 16531044
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Myopathy caused by acid maltase deficiency in an adult].
    Cartier L; Cea JG; Slachevsky A
    Rev Med Chil; 1995 Jun; 123(6):758-61. PubMed ID: 8525231
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].
    Merkli H; Pál E; Nagy F; Horváth R; Várdi VK; Komoly S; Illés Z
    Orv Hetil; 2006 Jul; 147(30):1421-4. PubMed ID: 16977780
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.