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Year Number of Results
2005 1
2010 1
2011 2
2013 1
2014 1
2019 1
2021 2
2022 1
2023 1
2024 1

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Page 1
Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Basgalupp SP, et al. Among authors: de camargo pinto ll. Am J Med Genet A. 2021 Aug;185(8):2471-2476. doi: 10.1002/ajmg.a.62252. Epub 2021 May 24. Am J Med Genet A. 2021. PMID: 34031990 Review.
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP, Altmann V, Vairo FPE, Schwartz IVD, Siebert M; MilitaoBrazilian Collaborative Group on Gaucher Disease. Basgalupp SP, et al. Mol Genet Metab Rep. 2023 Sep 9;37:101006. doi: 10.1016/j.ymgmr.2023.101006. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053927 Free PMC article.
Combined chemotherapy and teratogenicity.
Paskulin GA, Gazzola Zen PR, de Camargo Pinto LL, Rosa R, Graziadio C. Paskulin GA, et al. Among authors: de camargo pinto ll. Birth Defects Res A Clin Mol Teratol. 2005 Sep;73(9):634-7. doi: 10.1002/bdra.20180. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 16104005
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: de camargo pinto ll. 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.
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. Among authors: de camargo pinto ll. 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.
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
de Camargo Pinto LL, Maluf SW, Leistner-Segal S, Zimmer da Silva C, Brusius-Facchin A, Burin MG, Brustolin S, Llerena J, Moraes L, Vedolin L, Schuch A, Giugliani R, Schwartz IV. de Camargo Pinto LL, et al. Am J Med Genet A. 2011 Jan;155A(1):50-7. doi: 10.1002/ajmg.a.33770. Am J Med Genet A. 2011. PMID: 21204210
A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
Chaves TF, Ocampos M, Barbato IT, de Camargo Pinto LL, de Luca GR, Barbato Filho JH, Bernardi P, Costa Netto Muniz Y, Francesca Maris A. Chaves TF, et al. Among authors: de camargo pinto ll. Sci Rep. 2024 Feb 14;14(1):3762. doi: 10.1038/s41598-024-54385-2. Sci Rep. 2024. PMID: 38355898 Free PMC article.
11 results