Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
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.
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.
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
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