BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 2830069)

  • 1. First trimester prenatal evaluation for I-cell disease by N-acetyl-glucosamine 1-phosphotransferase assay.
    Ben-Yoseph Y; Mitchell DA; Nadler HL
    Clin Genet; 1988 Jan; 33(1):38-43. PubMed ID: 2830069
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prenatal diagnosis of I-cell disease in the first and second trimesters.
    Parvathy MR; Mitchell DA; Ben-Yoseph Y
    Am J Med Sci; 1989 Jun; 297(6):361-4. PubMed ID: 2544090
    [TBL] [Abstract][Full Text] [Related]  

  • 3. First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.
    Poenaru L; Castelnau L; Dumez Y; Thepot F
    Am J Hum Genet; 1984 Nov; 36(6):1379-85. PubMed ID: 6440435
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.
    Varki A; Reitman ML; Vannier A; Kornfeld S; Grubb JH; Sly WS
    Am J Hum Genet; 1982 Sep; 34(5):717-29. PubMed ID: 6289658
    [TBL] [Abstract][Full Text] [Related]  

  • 5. I-cell disease and pseudo-Hurler polydystrophy: heterozygote detection and characteristics of the altered N-acetyl-glucosamine-phosphotransferase in genetic variants.
    Mueller OT; Little LE; Miller AL; Lozzio CB; Shows TB
    Clin Chim Acta; 1985 Aug; 150(3):175-83. PubMed ID: 2998644
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.
    Reitman ML; Varki A; Kornfeld S
    J Clin Invest; 1981 May; 67(5):1574-9. PubMed ID: 6262380
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.
    Mueller OT; Honey NK; Little LE; Miller AL; Shows TB
    J Clin Invest; 1983 Sep; 72(3):1016-23. PubMed ID: 6309902
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
    Yang M; Cho SY; Park HD; Choi R; Kim YE; Kim J; Lee SY; Ki CS; Kim JW; Sohn YB; Song J; Jin DK
    Orphanet J Rare Dis; 2017 Jan; 12(1):11. PubMed ID: 28095893
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
    Tiede S; Cantz M; Spranger J; Braulke T
    Hum Mutat; 2006 Aug; 27(8):830-1. PubMed ID: 16835905
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.
    Hoffmann GF; Brendel SU; Scharfschwerdt SR; Shin YS; Speidel IM; Gibson KM
    J Inherit Metab Dis; 1992; 15(5):738-46. PubMed ID: 1331607
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Multiple sulphatase deficiency: prenatal diagnosis using chorionic villi.
    Patrick AD; Young E; Ellis C; Rodeck CH
    Prenat Diagn; 1988 May; 8(4):303-6. PubMed ID: 3399483
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
    Ben-Yoseph Y; Potier M; Mitchell DA; Pack BA; Melançon SB; Nadler HL
    Biochem J; 1987 Dec; 248(3):697-701. PubMed ID: 2829837
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III.
    Waheed A; Hasilik A; Cantz M; von Figura K
    Hoppe Seylers Z Physiol Chem; 1982 Feb; 363(2):169-78. PubMed ID: 6460679
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].
    Zhang WM; Shi HP; Li BT; Zhao SM; Qi QW; Sun NH; Huang SZ
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):644-7. PubMed ID: 17217652
    [TBL] [Abstract][Full Text] [Related]  

  • 15. First-trimester diagnosis of Lesch-Nyhan syndrome.
    Gibbs DA; McFadyen IR; Crawfurd MD; De Muinck Keizer EE; Headhouse-Benson CM; Wilson TM; Farrant PH
    Lancet; 1984 Nov; 2(8413):1180-3. PubMed ID: 6150236
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi.
    Young EP
    J Inherit Metab Dis; 1992; 15(2):224-30. PubMed ID: 1527990
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [I-cell disease and pseudo-Hurler polydystrophy].
    Owada M
    Nihon Rinsho; 1995 Dec; 53(12):3028-34. PubMed ID: 8577054
    [TBL] [Abstract][Full Text] [Related]  

  • 18. First-trimester diagnosis on chorionic villi obtained by direct vision technique.
    Gustavii B; Chester MA; Edvall H; Iosif S; Kristoffersson U; Löfberg L; Mineur A; Mitelman F
    Hum Genet; 1984; 65(4):373-6. PubMed ID: 6141141
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mucolipidosis III type C: first-trimester biochemical and molecular prenatal diagnosis.
    Falik-Zaccai TC; Zeigler M; Bargal R; Bach G; Borochowitz Z; Raas-Rothschild A
    Prenat Diagn; 2003 Mar; 23(3):211-4. PubMed ID: 12627421
    [TBL] [Abstract][Full Text] [Related]  

  • 20. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.
    Ho CC; Tsung LL; Liu KT; Poon WT
    BMC Med Genet; 2018 Sep; 19(1):162. PubMed ID: 30208878
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.