PMC Articles for MedGen (Select 7467) - PMC

Anna Bertolini, Miriam Rigoldi, Annalia Cianflone, Raffaella Mariani, Alberto Piperno, Francesco Canonico, Graziella Cefalo, Francesca Carubbi, Alessandro Simonati, Maria Letizia Urban, Tommaso Beccari, Rossella Parini

Clin Dysmorphol. 2024 Jan; 33(1): 1–8. Published online 2023 Nov 23. doi: 10.1097/MCD.0000000000000474

PMCID:: PMC10702697

Abstract Article PDF–500K

Select item 104988364.

Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?

Sundus Abdul Ghani, Sheeba Burney, Hassan ul Hussain, Maryam Abdul Wahid, Hassan Mumtaz

Int J Surg. 2023 Sep; 109(9): 2882–2885. Published online 2023 Jun 21. doi: 10.1097/JS9.0000000000000528

PMCID:: PMC10498836

Abstract Article PDF–236K

Select item 99814225.

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis

Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund

JIMD Rep. 2023 Mar; 64(2): 187–198. Published online 2022 Nov 25. doi: 10.1002/jmd2.12349

PMCID:: PMC9981422

Abstract Article PDF–2.5M

Select item 94966136.

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

Vykuntaraju Kammasandra Gowda, Varunvenkat M Srinivasan, Ashwin V Sardesai, Sanjay K Shivappa

J Pediatr Neurosci. 2021 Jul-Sep; 16(3): 249–251. Published online 2021 Jul 12. doi: 10.4103/jpn.JPN_71_20

PMCID:: PMC9496613

Abstract Article

Select item 93083627.

Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature

Julia B. Hennermann, Eva M. Raebel, Francesca Donà, Marie-Line Jacquemont, Graziella Cefalo, Andrea Ballabeni, Dag Malm

Orphanet J Rare Dis. 2022; 17: 287. Published online 2022 Jul 23. doi: 10.1186/s13023-022-02422-6

PMCID:: PMC9308362

Abstract Article PDF–1.2M

Select item 88569038.

Long-term outcome of patients with alpha-mannosidosis – A single center study

Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Katarzyna Iwanicka-Pronicka, Barbara Perkowska, Paulina Pokora, Anna Tylki-Szymańska

Mol Genet Metab Rep. 2022 Mar; 30: 100826. Published online 2021 Dec 9. doi: 10.1016/j.ymgmr.2021.100826

PMCID:: PMC8856903

Abstract Article PDF–1.9M

Select item 84943249.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, Imen Chelly, Hela Boudabbous, Hamza Dallali, Crystel Bonnet, Meriem Hechmi, Soumeya Bekri, Nadia Zitouna, Lotfi Zekri, Amel Tounsi, Rym Kefi, Jihene Marrakchi, Olfa Messaoud, Ichraf Kraoua, Sonia Maalej, Ilhem Turki Ben Youssef, Ahlem Ben Hmid, Fabrice Giraudet, Sami Bouchoucha, Neji Tebib, Ghazi Besbes, Christine Petit, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi

PLoS One. 2021; 16(10): e0258202. Published online 2021 Oct 6. doi: 10.1371/journal.pone.0258202

PMCID:: PMC8494324

Abstract Article PDF–862K

Select item 811899810.

Apparent Diffusion Coefficient Reveals Gray and White Matter Disease, and T2 Mapping Detects White Matter Disease in the Brain in Feline Alpha-Mannosidosis

C.H. Vite, S. Magnitsky, D. Aleman, P. O’Donnell, K. Cullen, W. Ding, S. Pickup, J.H. Wolfe, H. Poptani

AJNR Am J Neuroradiol. 2008 Feb; 29(2): 308–313. doi: 10.3174/ajnr.A0791

PMCID:: PMC8118998

Abstract Article PDF–450K

Select item 752594011.

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol

Orphanet J Rare Dis. 2020; 15: 271. Published online 2020 Sep 29. doi: 10.1186/s13023-020-01549-8

PMCID:: PMC7525940

Abstract Article PDF–889K

Select item 746305212.

Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis

Lucia Santoro, Lucia Zampini, Lucia Padella, Chiara Monachesi, Stefania Zampieri, Andrea Dardis, Rosanna Cordiali, Tiziana Galeazzi, Carlo Catassi

JIMD Rep. 2020 Sep; 55(1): 15–21. Published online 2020 Jul 10. doi: 10.1002/jmd2.12144

PMCID:: PMC7463052

Abstract Article PDF–1.2M

Select item 736349513.

Global CNS correction in a large brain model of human alpha-mannosidosis by intravascular gene therapy

Sea Young Yoon, Jacqueline E Hunter, Sanjeev Chawla, Dana L Clarke, Caitlyn Molony, Patricia A O’Donnell, Jessica H Bagel, Manoj Kumar, Harish Poptani, Charles H Vite, John H Wolfe

Brain. 2020 Jul; 143(7): 2058–2072. Published online 2020 Jul 16. doi: 10.1093/brain/awaa161

PMCID:: PMC7363495

Abstract Article PDF–1.5M

Select item 714940214.

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund

Mol Genet Metab Rep. 2020 Jun; 23: 100586. Published online 2020 Apr 8. doi: 10.1016/j.ymgmr.2020.100586

PMCID:: PMC7149402

Abstract Article PDF–878K

Select item 685097415.

Intellectual functioning in alpha‐mannosidosis

Sara S. Cathey, Sara M. Sarasua, Richard Simensen, Katie Pietris, Gordon Kimbrell, David Sillence, Callum Wilson, Lucia Horowitz

JIMD Rep. 2019 Nov; 50(1): 44–49. Published online 2019 Sep 21. doi: 10.1002/jmd2.12073

PMCID:: PMC6850974

Abstract Article PDF–1.2M

Select item 672040616.

Intranasal dexmedetomidine and intravenous ketamine for procedural sedation in a child with alpha-mannosidosis: a magic bullet?

Matteo Trevisan, Sara Romano, Egidio Barbi, Irene Bruno, Flora Maria Murru, Giorgio Cozzi

Ital J Pediatr. 2019; 45: 119. Published online 2019 Sep 3. doi: 10.1186/s13052-019-0711-1

PMCID:: PMC6720406

Abstract Article PDF–1.0M

Select item 671010717.

Tandem Mass Spectrometry-Based Multiplex Assays for α-Mannosidosis and Fucosidosis

Arun Babu Kumar, Xinying Hong, Fan Yi, Tim Wood, Michael H Gelb

Mol Genet Metab. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: Mol Genet Metab. 2019 Jul; 127(3): 207–211. Published online 2019 Jun 10. doi: 10.1016/j.ymgme.2019.05.016

PMCID:: PMC6710107

Abstract Article PDF–959K

Select item 655772918.

Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey

Jacqueline Adam, Rachel Malone, Sioned Lloyd, Jennifer Lee, Christian J. Hendriksz, Uma Ramaswami

Mol Genet Metab Rep. 2019 Sep; 20: 100480. Published online 2019 Jun 8. doi: 10.1016/j.ymgmr.2019.100480

PMCID:: PMC6557729

Abstract Article PDF–585K

Select item 632698419.

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, Christine I. Dali, Linda De Meirleir, Mercedes Gil-Campos, Bénédicte Heron, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Jens Fogh, J. M. Hannerieke Van den Hout, Michael Beck, Simon A. Jones, Anna Tylki-Szymanska, Ulla Haugsted, Allan M. Lund

J Inherit Metab Dis. 2018; 41(6): 1215–1223. Published online 2018 May 30. doi: 10.1007/s10545-018-0185-0

PMCID:: PMC6326984

Abstract Article PDF–699K

Select item 632695720.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Allan M. Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil-Campos, Linda De Meirleir, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki-Szymanska, Monica Lopez-Rodriguez, Encarna Guillén-Navarro, Christine I. Dali, Bénédicte Héron, Jens Fogh, Nicole Muschol, Dawn Phillips, J. M. Hannerieke Van den Hout, Simon A. Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon

J Inherit Metab Dis. 2018; 41(6): 1225–1233. Published online 2018 May 3. doi: 10.1007/s10545-018-0175-2

PMCID:: PMC6326957

Abstract Article PDF–500K

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