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 *

225 related articles for article (PubMed ID: 24060719)

  • 1. Mucolipidosis II: first report from Saudi Arabia.
    Alfadhel M; AlShehhi W; Alshaalan H; Al Balwi M; Eyaid W
    Ann Saudi Med; 2013; 33(4):382-6. PubMed ID: 24060719
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dilated cardiomyopathy in mucolipidosis type 2.
    Carboni E; Sestito S; Lucente M; Morrone A; Zampini L; Chimenz R; Ceravolo MD; De Sarro R; Ceravolo G; Calabrò MP; Parisi F; Moricca MT; Pensabene L; Musolino D; Concolino D
    J Biol Regul Homeost Agents; 2020; 34(4 Suppl. 2):71-77. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PubMed ID: 33000604
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
    Kudo M; Brem MS; Canfield WM
    Am J Hum Genet; 2006 Mar; 78(3):451-63. PubMed ID: 16465621
    [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. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
    Wang Y; Ye J; Qiu WJ; Han LS; Gao XL; Liang LL; Gu XF; Zhang HW
    Acta Pharmacol Sin; 2019 Feb; 40(2):279-287. PubMed ID: 29872134
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.
    Aggarwal S; Coutinho MF; Dalal AB; Mohamed Nurul Jain SJ; Prata MJ; Alves S
    Gene; 2014 Jun; 542(2):266-8. PubMed ID: 24685522
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
    Velho RV; Harms FL; Danyukova T; Ludwig NF; Friez MJ; Cathey SS; Filocamo M; Tappino B; Güneş N; Tüysüz B; Tylee KL; Brammeier KL; Heptinstall L; Oussoren E; van der Ploeg AT; Petersen C; Alves S; Saavedra GD; Schwartz IV; Muschol N; Kutsche K; Pohl S
    Hum Mutat; 2019 Jul; 40(7):842-864. PubMed ID: 30882951
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
    Paton L; Bitoun E; Kenyon J; Priestman DA; Oliver PL; Edwards B; Platt FM; Davies KE
    J Biol Chem; 2014 Sep; 289(39):26709-26721. PubMed ID: 25107912
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
    Liu S; Zhang W; Shi H; Meng Y; Qiu Z
    Gene; 2014 Feb; 535(2):294-8. PubMed ID: 24316125
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
    Cury GK; Matte U; Artigalás O; Alegra T; Velho RV; Sperb F; Burin MG; Ribeiro EM; Lourenço CM; Kim CA; Valadares ER; Galera MF; Acosta AX; Schwartz IV
    Gene; 2013 Jul; 524(1):59-64. PubMed ID: 23566849
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE.
    Nur BG; Erdogan Y; Curek Y; Akcakus M; Oygur N; Bircan I; Mihci E
    Genet Couns; 2016; 27(3):373-380. PubMed ID: 30204966
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.
    Hashemi-Gorji F; Ghafouri-Fard S; Salehpour S; Yassaee VR; Miryounesi M
    J Pediatr Endocrinol Metab; 2016 Aug; 29(8):991-3. PubMed ID: 27180337
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
    Pasumarthi D; Gupta N; Sheth J; Jain SJMN; Rungsung I; Kabra M; Ranganath P; Aggarwal S; Phadke SR; Girisha KM; Shukla A; Datar C; Verma IC; Puri RD; Bhavsar R; Mistry M; Sankar VH; Gowrishankar K; Agrawal D; Nair M; Danda S; Soni JP; Dalal A
    J Hum Genet; 2020 Nov; 65(11):971-984. PubMed ID: 32651481
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
    Plante M; Claveau S; Lepage P; Lavoie EM; Brunet S; Roquis D; Morin C; Vézina H; Laprise C
    Clin Genet; 2008 Mar; 73(3):236-44. PubMed ID: 18190596
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
    Khan MA; Zubaida B; Karim N; Cheema HA; Naeem M
    J Pediatr Endocrinol Metab; 2020 May; 33(5):647-651. PubMed ID: 32238606
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
    Liu N; Feng Y; Jiang M; Kong XD
    Zhonghua Er Ke Za Zhi; 2019 Dec; 57(12):950-954. PubMed ID: 31795562
    [No Abstract]   [Full Text] [Related]  

  • 17. Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
    Burgac E; Kaplan İ; Köseci B; Kara E; Kor D; Bulut FD; Atmış A; Pişkin F; Tuğ Bozdoğan S; Urel Demir G; İncecik F; Önenli Mungan N
    Am J Med Genet A; 2024 Jun; 194(6):e63545. PubMed ID: 38264826
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mucolipidosis type II and type III: a systematic review of 843 published cases.
    Dogterom EJ; Wagenmakers MAEM; Wilke M; Demirdas S; Muschol NM; Pohl S; Meijden JCV; Rizopoulos D; Ploeg ATV; Oussoren E
    Genet Med; 2021 Nov; 23(11):2047-2056. PubMed ID: 34172897
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
    Ludwig NF; Velho RV; Sperb-Ludwig F; Acosta AX; Ribeiro EM; Kim CA; Gandelman Horovitz DD; Boy R; Rodovalho-Doriqui MJ; Lourenço CM; Santos ES; Braulke T; Pohl S; Schwartz IVD
    Int J Biochem Cell Biol; 2017 Nov; 92():90-94. PubMed ID: 28918368
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
    Cathey SS; Leroy JG; Wood T; Eaves K; Simensen RJ; Kudo M; Stevenson RE; Friez MJ
    J Med Genet; 2010 Jan; 47(1):38-48. PubMed ID: 19617216
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.