Schwartz IVD - Search Results

1

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.

Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. Di Lorenzo G, et al. Among authors: schwartz ivd. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.

2

Further cases of "neighbor" mutations in mucopolysaccharidosis type II.

Schwartz IV, Lima LC, Tylee K, Sobrinho RP, Norato DY, Duarte AR, Besley G, Burin MG, Matte U, Giugliani R, Leistner-Segal S. Schwartz IV, et al. Am J Med Genet A. 2006 Aug 1;140(15):1684-6. doi: 10.1002/ajmg.a.31317. Am J Med Genet A. 2006. PMID: 16770800 No abstract available.

3

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. Cury GK, et al. Gene. 2013 Jul 15;524(1):59-64. doi: 10.1016/j.gene.2013.03.105. Epub 2013 Apr 6. Gene. 2013. PMID: 23566849 Free article.

4

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.

Velho RV, De Pace R, Klünder S, Sperb-Ludwig F, Lourenço CM, Schwartz IV, Braulke T, Pohl S. Velho RV, et al. Hum Mol Genet. 2015 Jun 15;24(12):3497-505. doi: 10.1093/hmg/ddv100. Epub 2015 Mar 18. Hum Mol Genet. 2015. PMID: 25788519 Free PMC article.

5

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals.

Velho RV, Sperb-Ludwig F, Schwartz IV. Velho RV, et al. An Acad Bras Cienc. 2015 Aug;87(2 Suppl):1375-88. doi: 10.1590/0001-3765201520140711. Epub 2015 Aug 4. An Acad Bras Cienc. 2015. PMID: 26247150 Free article. Review.

6

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Velho RV, Ludwig NF, Alegra T, Sperb-Ludwig F, Guarany NR, Matte U, Schwartz IV. Velho RV, et al. J Hum Genet. 2016 Jun;61(6):555-60. doi: 10.1038/jhg.2016.13. Epub 2016 Mar 3. J Hum Genet. 2016. PMID: 26935170

7

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

Velho RV, Alegra T, Sperb F, Ludwig NF, Saraiva-Pereira ML, Matte U, Schwartz IV. Velho RV, et al. Mol Genet Metab Rep. 2014 Feb 27;1:98-102. doi: 10.1016/j.ymgmr.2014.01.002. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896079 Free PMC article.

8

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: schwartz ivd. Mol Genet Metab Rep. 2014 Dec 5;2:34-37. doi: 10.1016/j.ymgmr.2014.12.001. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649523 Free PMC article.

9

Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism.

Poloni S, Spritzer PM, Mendes RH, D'Almeida V, Castro K, Sperb-Ludwig F, Kugele J, Tucci S, Blom HJ, Schwartz IVD. Poloni S, et al. Among authors: schwartz ivd. Clin Chim Acta. 2017 Oct;473:82-88. doi: 10.1016/j.cca.2017.08.005. Epub 2017 Aug 8. Clin Chim Acta. 2017. PMID: 28801090

10

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Siebert M, Jobim M, Vairo F, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: schwartz ivd. Genet Mol Biol. 2019 Jul-Sep;42(3):571-573. doi: 10.1590/1678-4685-GMB-2018-0246. Epub 2019 Nov 14. Genet Mol Biol. 2019. PMID: 31188938 Free PMC article.

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