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Journal Abstract Search

211 related items for PubMed ID: 2940012

  • 1. [Laboratory diagnosis of lysosomal storage disease (glycoproteinosis Pompe's disease and Gaucher disease)].
    Shi HP, Zhang GX, Guo YF, Fang BL, Zhang WM, Chen F, Luo HY.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1985 Dec; 7(6):475-7. PubMed ID: 2940012
    [No Abstract] [Full Text] [Related]

  • 2. Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy.
    Besançon AM, Castelnau L, Nicolesco H, Dumez Y, Poenaru L.
    Clin Genet; 1985 May; 27(5):479-82. PubMed ID: 3891160
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  • 5. Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.
    Bonnici F, Shapiro R, Joffe HS, Petersen EM.
    S Afr Med J; 1980 Nov 22; 58(21):860-2. PubMed ID: 6777881
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  • 6. Alpha-L-fucosidase in cultured bone marrow fibroblasts from fucosidosis patients.
    Beratis NG, Hirschhorn K.
    Am J Med Genet; 1978 Nov 22; 2(1):23-9. PubMed ID: 122446
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  • 7. alpha-Glucosidase in Pompe's disease.
    Broadhead DM, Butterworth J.
    J Inherit Metab Dis; 1978 Nov 22; 1(4):153-4. PubMed ID: 41974
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  • 8. [Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].
    Willemsen MA, Jira PE, Gabreëls FJ, van der Ploeg AT, Smeitink JA.
    Ned Tijdschr Geneeskd; 1998 Jun 13; 142(24):1388-92. PubMed ID: 9752027
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  • 9. Muscular form of glycogenosis type II (Pompe's disease).
    Tanaka K, Shimazu S, Oya N, Tomisawa M, Kusunoki T, Soyama K, Ono E.
    Pediatrics; 1979 Jan 13; 63(1):124-9. PubMed ID: 375166
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  • 10. A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease).
    Blau K.
    J Inherit Metab Dis; 1978 Jan 13; 1(3):85-8. PubMed ID: 116083
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  • 11. Diagnosis of Pompe's disease using pyridylamino-maltooligosaccharides as substrates of alpha-1,4-glucosidase.
    Midorikawa M, Okada S, Kato T, Yutaka T, Yabuuchi H.
    Clin Chim Acta; 1985 Apr 15; 147(2):97-102. PubMed ID: 3886206
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  • 12. Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease).
    Pokorny KS, Ritch R, Friedman AH, Desnick RJ.
    Invest Ophthalmol Vis Sci; 1982 Jan 15; 22(1):25-31. PubMed ID: 6948796
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  • 13. [Tests for the detection of inborn errors of metabolism--urinary alpha-glucosidase analysis for the detection of glycogen storage disease type II (author's transl)].
    Soyama K, Ono E.
    Rinsho Byori; 1978 Dec 15; 26(12):1022-6. PubMed ID: 370427
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  • 14. [Prenatal diagnosis of glycogenosis II.--Pompe's disease].
    Macek M, Tomásová H, Hug G, Reinsteinová H, Seemanová E, Salichová J.
    Cesk Pediatr; 1977 Jul 15; 32(7):427-30. PubMed ID: 270392
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  • 16. [The BM test and lysosomal enzyme in the meconium in neonatal screening of cystic fibrosis].
    Marchi AG, Castelpietra L, Mangiarotti MA, Cigui I, Uxa F, Pecile V, Nordio S.
    Minerva Pediatr; 1981 Jul 15; 33(13):641-6. PubMed ID: 6267441
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  • 17. Enhanced enzyme activity after incubation with zinc can be used to distinguish heterozygotes of Pompe's disease.
    Lin CY.
    Pediatr Res; 1988 Mar 15; 23(3):283-7. PubMed ID: 3281122
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  • 18. Prenatal detection of Pompe's disease by induction of alkaline phosphatase in cultured amniotic fluid cells.
    Hähnel R, Stratton CJ, Wysocki SJ, Hockey A.
    Aust N Z J Obstet Gynaecol; 1981 Feb 15; 21(1):43-6. PubMed ID: 7020685
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  • 19. Pompe's disease: diagnosis in kidney and leucocytes using 4-methylumbelliferyl-alpha-D-glucopyranoside.
    Broadhead DM, Butterworth J.
    Clin Genet; 1978 Jun 15; 13(6):504-10. PubMed ID: 352582
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  • 20. Glycogen storage disease type II (Pompe's disease): the first biochemical evidence in Thailand.
    Rangdaeng S, Scollard DM, Srichairatanakol S, Sutthachit M, Phornphutkul C.
    J Med Assoc Thai; 1987 Sep 15; 70(9):536-42. PubMed ID: 2960768
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