Schwartz IVD - Search Results

1

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F, Pinheiro FC, Bettio Soares M, Nalin T, Ribeiro EM, Steiner CE, Ribeiro Valadares E, Porta G, Fishinger Moura de Souza C, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: schwartz ivd. Mol Genet Genomic Med. 2019 Nov;7(11):e877. doi: 10.1002/mgg3.877. Epub 2019 Sep 11. Mol Genet Genomic Med. 2019. PMID: 31508908 Free PMC article.

2

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.

Nalin T, Perry ID, Sitta A, Vargas CR, Saraiva-Pereira ML, Giugliani R, Blau N, Schwartz IV. Nalin T, et al. Mol Genet Metab. 2011;104 Suppl:S80-5. doi: 10.1016/j.ymgme.2011.09.019. Epub 2011 Sep 20. Mol Genet Metab. 2011. PMID: 22014474 Free article.

3

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.

Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, Horovitz DD, Ribeiro EM, Valadares ER, Goulart I, Neves de Souza IC, da Costa Neri JI, Santana-da-Silva LC, Silva LR, Ribeiro M, de Oliveira Sobrinho RP, Giugliani R, Schwartz IV. Dornelles AD, et al. Genet Mol Biol. 2014 Mar;37(1):23-9. doi: 10.1590/s1415-47572014000100006. Epub 2013 Feb 28. Genet Mol Biol. 2014. PMID: 24688287 Free PMC article.

4

Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?

Vairo F, Sperb-Ludwig F, Wilke M, Michellin-Tirelli K, Netto C, Camargo Neto E, Schwartz IV. Vairo F, et al. J Neuroimmunol. 2015 Jun 15;283:63. doi: 10.1016/j.jneuroim.2015.05.004. Epub 2015 May 5. J Neuroimmunol. 2015. PMID: 26004158 No abstract available.

5

Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul, Brazil.

Trevisan LM, Nalin T, Tonon T, Veiga LM, Vargas P, Krug BC, Leivas PG, Schwartz IV. Trevisan LM, et al. Cien Saude Colet. 2015 May;20(5):1607-16. doi: 10.1590/1413-81232015205.08302014. Cien Saude Colet. 2015. PMID: 26017962 Free article.

6

Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study.

Bitencourt FH, Vieira TA, Steiner CE, Neto JC, Boy R, Schwartz IVD. Bitencourt FH, et al. Among authors: schwartz ivd. Value Health Reg Issues. 2015 Dec;8:99-106. doi: 10.1016/j.vhri.2015.08.002. Epub 2015 Sep 29. Value Health Reg Issues. 2015. PMID: 29698178 Free article.

7

Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases.

Martinez CC, Tonon T, Nalin T, Refosco LF, de Souza CFM, Schwartz IVD. Martinez CC, et al. Among authors: schwartz ivd. JIMD Rep. 2019;45:21-27. doi: 10.1007/8904_2018_131. Epub 2018 Sep 22. JIMD Rep. 2019. PMID: 30242630 Free PMC article.

8

Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study.

Sperb-Ludwig F, Heineck BL, Michelin-Tirelli K, Alegra T, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: schwartz ivd. Clin Chim Acta. 2019 May;492:1-6. doi: 10.1016/j.cca.2019.01.018. Epub 2019 Jan 26. Clin Chim Acta. 2019. PMID: 30695688

9

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

Paskulin L, Dornelles AD, Quevedo A, Nalin T, Tirelli KM, Vairo F, Schwartz IVD. Paskulin L, et al. Among authors: schwartz ivd. Mol Genet Metab Rep. 2019 Jan 16;18:30-31. doi: 10.1016/j.ymgmr.2018.11.004. eCollection 2019 Mar. Mol Genet Metab Rep. 2019. PMID: 30705823 Free PMC article. No abstract available.

10

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.

Pinheiro FC, Sperb-Ludwig F, Ligabue-Braun R, Schüler-Faccini L, de Souza CFM, Vairo F, Schwartz IVD. Pinheiro FC, et al. Among authors: schwartz ivd. Gene. 2019 May 30;699:102-109. doi: 10.1016/j.gene.2019.03.007. Epub 2019 Mar 9. Gene. 2019. PMID: 30858132

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

205 results

Search Page