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

21 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: poswar fo. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.
van Geest FS, Meima ME, Stuurman KE, Wolf NI, van der Knaap MS, Lorea CF, Poswar FO, Vairo F, Brunetti-Pierri N, Cappuccio G, Bakhtiani P, de Munnik SA, Peeters RP, Visser WE, Groeneweg S. van Geest FS, et al. Among authors: poswar fo. J Clin Endocrinol Metab. 2021 Jan 23;106(2):539-553. doi: 10.1210/clinem/dgaa795. J Clin Endocrinol Metab. 2021. PMID: 33141165 Free PMC article.
Phase I and II clinical trials for the mucopolysaccharidoses.
Poswar F, Baldo G, Giugliani R. Poswar F, et al. Expert Opin Investig Drugs. 2017 Dec;26(12):1331-1340. doi: 10.1080/13543784.2017.1397130. Epub 2017 Oct 31. Expert Opin Investig Drugs. 2017. PMID: 29065735 Review.
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Wilke MVMB, Poswar F, Borelli WV, Michelin Tirelli K, Randon DN, Lopes FF, Pasetto FB, Sebastião FM, Iop GD, Faqueti L, da Silva LA, Kubaski F, Schuh AFS, Giugliani R, Schwartz IVD. Wilke MVMB, et al. Orphanet J Rare Dis. 2023 Oct 2;18(1):309. doi: 10.1186/s13023-023-02875-3. Orphanet J Rare Dis. 2023. PMID: 37784132 Free PMC article.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Montenegro YHA, Kubaski F, Trapp FB, Riegel-Giugliani M, Souza CFM, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Vairo FPE, Baldo G, Giugliani R, Poswar FO. Montenegro YHA, et al. Among authors: poswar fo. Genet Mol Biol. 2024 Mar 8;47(1):e20230285. doi: 10.1590/1678-4685-GMB-2023-0285. eCollection 2024. Genet Mol Biol. 2024. PMID: 38488524 Free PMC article.
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M, Iop GD, Faqueti L, Lemos da Silva LA, Kubaski F, Poswar FO, Michelin-Tirelli K, Randon D, Borelli WV, Giugliani R, Schwartz IVD. Vernet Machado Bressan Wilke M, et al. Among authors: poswar fo. Int J Mol Sci. 2024 Mar 1;25(5):2870. doi: 10.3390/ijms25052870. Int J Mol Sci. 2024. PMID: 38474117 Free PMC article.
21 results