Sperb-Ludwig F - Search Results

1

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. 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.

2

Fabry disease: a new approach for the screening of females in high-risk groups.

Pasqualim G, Simon L, Sperb-Ludwig F, Burin MG, Michelin-Tirelli K, Giugliani R, Matte U. Pasqualim G, et al. Clin Biochem. 2014 May;47(7-8):657-62. doi: 10.1016/j.clinbiochem.2014.02.014. Epub 2014 Feb 25. Clin Biochem. 2014. PMID: 24582695

3

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.

Alegra T, Koppe T, Acosta A, Sarno M, Burin M, Kessler RG, Sperb-Ludwig F, Cury G, Baldo G, Matte U, Giugliani R, Schwartz IV. Alegra T, et al. Meta Gene. 2014 Jun 1;2:403-6. doi: 10.1016/j.mgene.2014.03.003. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606425 Free PMC 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

Osteopontin: a potential biomarker of Gaucher disease.

Vairo F, Sperb-Ludwig F, Wilke M, Michellin-Tirelli K, Netto C, Neto EC, Schwartz I. Vairo F, et al. Ann Hematol. 2015 Jul;94(7):1119-25. doi: 10.1007/s00277-015-2354-7. Epub 2015 Apr 1. Ann Hematol. 2015. PMID: 25875742

6

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.

7

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

8

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing.

Ludwig NF, Sperb-Ludwig F, Velho RV, Schwartz IVD. Ludwig NF, et al. Mol Genet Metab Rep. 2017 Mar 1;11:92-93. doi: 10.1016/j.ymgmr.2017.02.002. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28649512 Free PMC article. No abstract available.

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. 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

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. Ludwig NF, et al. Int J Biochem Cell Biol. 2017 Nov;92:90-94. doi: 10.1016/j.biocel.2017.09.006. Epub 2017 Sep 14. Int J Biochem Cell Biol. 2017. PMID: 28918368

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