Sperb-Ludwig F - Search Results

1

A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.

Monteiro VCL, de Oliveira BM, Dos Santos BB, Sperb-Ludwig F, Refosco LF, Nalin T, Derks TGJ, Moura de Souza CF, Schwartz IVD. Monteiro VCL, et al. Among authors: sperb ludwig f. Orphanet J Rare Dis. 2021 Jun 3;16(1):254. doi: 10.1186/s13023-021-01877-3. Orphanet J Rare Dis. 2021. PMID: 34082801 Free PMC article. Clinical Trial.

2

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.

3

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

4

Determination of amylose/amylopectin ratio of starches.

Nalin T, Sperb-Ludwig F, Venema K, Derks TG, Schwartz IV. Nalin T, et al. J Inherit Metab Dis. 2015 Sep;38(5):985-6. doi: 10.1007/s10545-015-9850-8. Epub 2015 Apr 29. J Inherit Metab Dis. 2015. PMID: 25921820 No abstract available.

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

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.

8

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

9

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.

Scaini G, Tonon T, Moura de Souza CF, Schuck PF, Ferreira GC, Quevedo J, Neto JS, Amorim T, Camelo JS Jr, Margutti AVB, Hencke Tresbach R, Sperb-Ludwig F, Boy R, de Medeiros PFV, Schwartz IVD, Streck EL. Scaini G, et al. J Inherit Metab Dis. 2018 May 8. doi: 10.1007/s10545-018-0188-x. Online ahead of print. J Inherit Metab Dis. 2018. PMID: 29740775

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. 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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