These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 12790082)

  • 1. [Mucolipidoses type II. Case report].
    Aracena M; Mabe P; Mena M; Andreani S; Daza C
    Rev Med Chil; 2003 Mar; 131(3):314-9. PubMed ID: 12790082
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].
    Elleder M; Poupĕtová H; Zeman J; Hrebícek M; Ledvinová J; Baxová A; Podhola M
    Cas Lek Cesk; 1997 Nov; 136(22):702-6. PubMed ID: 9476383
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. I-cell disease.
    Patel ZM; Ambani LM
    J Inherit Metab Dis; 1980; 2(2):35-7. PubMed ID: 6118467
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mucolipidoses Overview: Past, Present, and Future.
    Khan SA; Tomatsu SC
    Int J Mol Sci; 2020 Sep; 21(18):. PubMed ID: 32957425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Hereditary lysosomal diseases in Mexico. II. Laboratory diagnosis of mucopolysaccharidosis and mucolipidosis].
    Zetina ME; Gonzalez-Noriega A
    Rev Invest Clin; 1990; 42(3):165-73. PubMed ID: 2125355
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Mucolipidosis II with unusual biochemical parameters].
    Morava E; Eduard P; Tóth G; Dobos M; Melegh B; Kosztolányi G
    Orv Hetil; 2002 Jan; 143(3):135-7. PubMed ID: 11883111
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Mucolipidosis: clinical and genetic aspects].
    Kolodny EH
    Rev Neurol; 1998 Aug; 27(156):337-41. PubMed ID: 9736966
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Mucolipidosis II or "I-cell disease" in the newborn infant. 2 new cases].
    Tamés I; Gracía A; Aladro A; Vieito X; González FA; Chabas A
    An Esp Pediatr; 1987 Oct; 27(4):297-302. PubMed ID: 2827550
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mucolipidosis II. The clinical, radiological and biochemical features in three cases.
    Whelan DT; Chang PL; Cockshott PW
    Clin Genet; 1983 Aug; 24(2):90-6. PubMed ID: 6137302
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities.
    Simsek-Kiper PO; Topaloglu R; Sahin Y; Utine GE; Boduroglu K
    Genet Couns; 2013; 24(1):7-12. PubMed ID: 23610860
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
    Honey NK; Miller AL; Shows TB
    Am J Med Genet; 1981; 9(3):239-53. PubMed ID: 7282783
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mucolipidoses--II: A report of three cases.
    Lalwani SG; Kher A; Shridhar N; Bharucha BA; Naik GG
    Indian J Pediatr; 1995; 62(5):611-4. PubMed ID: 10829931
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Neonatal mucolipidosis type II].
    Hmami F; Oulmaati A; Bouharrou A
    Arch Pediatr; 2016 Jan; 23(1):71-4. PubMed ID: 26552632
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mucolipidosis type III. Multiple elevated serum and urine enzyme activities.
    Herd JK; Dvorak AD; Wiltse HE; Eisen JD; Kress BC; Miller AL
    Am J Dis Child; 1978 Dec; 132(12):1181-6. PubMed ID: 152578
    [TBL] [Abstract][Full Text] [Related]  

  • 17. I-cell disease: report of a case.
    Chang SH; Lin SJ; Lee YY; Yang RC; Yang SL
    Kaohsiung J Med Sci; 1996 May; 12(5):295-300. PubMed ID: 8676436
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Systemic accumulation of undigested lysosomal metabolites in an autopsy case of mucolipidosis type II; autophagic dysfunction in cardiomyocyte.
    Sato Y; Kobayashi H; Sato S; Shimada Y; Fukuda T; Eto Y; Ohashi T; Ida H
    Mol Genet Metab; 2014 Jul; 112(3):224-8. PubMed ID: 24857410
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases.
    Yuksel A; Kayserili H; Gungor F
    Fetal Diagn Ther; 2007; 22(3):198-202. PubMed ID: 17228159
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Mucolipidosis type III (case report)].
    Ligutić I; Barisić I; Fumić K; Sabados M
    Lijec Vjesn; 1996; 118(1-2):17-20. PubMed ID: 8759415
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.