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Items: 1 to 20 of 27

1.

Retinal and optic nerve degeneration in α-mannosidosis.

Matlach J, Zindel T, Amraoui Y, Arash-Kaps L, Hennermann JB, Pitz S.

Orphanet J Rare Dis. 2018 Jun 1;13(1):88. doi: 10.1186/s13023-018-0829-z.

2.

Alpha-Mannosidosis: Therapeutic Strategies.

Ceccarini MR, Codini M, Conte C, Patria F, Cataldi S, Bertelli M, Albi E, Beccari T.

Int J Mol Sci. 2018 May 17;19(5). pii: E1500. doi: 10.3390/ijms19051500. Review.

3.

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.

Harmatz P, Cattaneo F, Ardigò D, Geraci S, Hennermann JB, Guffon N, Lund A, Hendriksz CJ, Borgwardt L.

Mol Genet Metab. 2018 Jun;124(2):152-160. doi: 10.1016/j.ymgme.2018.04.003. Epub 2018 Apr 18.

4.

Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice.

Stroobants S, Damme M, Van der Jeugd A, Vermaercke B, Andersson C, Fogh J, Saftig P, Blanz J, D'Hooge R.

Neurobiol Dis. 2017 Oct;106:255-268. doi: 10.1016/j.nbd.2017.07.013. Epub 2017 Jul 15.

PMID:
28720484
5.

Lysosomal alpha-mannosidase and alpha-mannosidosis.

Paciotti S, Codini M, Tasegian A, Ceccarini MR, Cataldi S, Arcuri C, Fioretti B, Albi E, Beccari T.

Front Biosci (Landmark Ed). 2017 Jan 1;22:157-167. Review.

PMID:
27814608
6.

Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1.

Yoon SY, Bagel JH, O'Donnell PA, Vite CH, Wolfe JH.

Mol Ther. 2016 Feb;24(1):26-33. doi: 10.1038/mt.2015.168. Epub 2015 Sep 10.

7.

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund AM.

Orphanet J Rare Dis. 2015 Jun 6;10:70. doi: 10.1186/s13023-015-0286-x.

8.

Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.

Borgwardt L, Thuesen AM, Olsen KJ, Fogh J, Dali CI, Lund AM.

J Inherit Metab Dis. 2015 Nov;38(6):1119-27. doi: 10.1007/s10545-015-9862-4. Epub 2015 May 28.

PMID:
26016802
9.

Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.

Borgwardt L, Lund AM, Dali CI.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:185-91. Review.

PMID:
25345101
10.

Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.

Wu X, Pan J, Guo Y, Guo C, Jiang W, Li R, Tang J, Ai Y.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):491-5. doi: 10.1515/jpem-2013-0307.

PMID:
24353136
11.

Natural history of alpha mannosidosis a longitudinal study.

Beck M, Olsen KJ, Wraith JE, Zeman J, Michalski JC, Saftig P, Fogh J, Malm D.

Orphanet J Rare Dis. 2013 Jun 20;8:88. doi: 10.1186/1750-1172-8-88.

12.

The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.

Malm D, Riise Stensland HM, Edvardsen Ø, Nilssen Ø.

J Inherit Metab Dis. 2014 Jan;37(1):79-82. doi: 10.1007/s10545-013-9622-2. Epub 2013 Jun 6.

PMID:
23739775
13.

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study.

Borgwardt L, Dali CI, Fogh J, Månsson JE, Olsen KJ, Beck HC, Nielsen KG, Nielsen LH, Olsen SO, Riise Stensland HM, Nilssen O, Wibrand F, Thuesen AM, Pearl T, Haugsted U, Saftig P, Blanz J, Jones SA, Tylki-Szymanska A, Guffon-Fouiloux N, Beck M, Lund AM.

J Inherit Metab Dis. 2013 Nov;36(6):1015-24. doi: 10.1007/s10545-013-9595-1. Epub 2013 Mar 14.

PMID:
23494656
14.

Alpha-mannosidosis: a report of 2 siblings and review of the literature.

Govender R, Mubaiwa L.

J Child Neurol. 2014 Jan;29(1):131-4. doi: 10.1177/0883073812470973. Epub 2013 Jan 9. Review.

PMID:
23307885
15.

Severe periodontal destruction in alpha-mannosidosis: a case series.

Kalsi JS, Auplish G, Johnson AR, Darbar UR.

Pediatr Dent. 2012 Sep-Oct;34(5):140-3.

PMID:
23211899
16.

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.

Menéndez-Sainz C, González-Quevedo A, González-García S, Peña-Sánchez M, Giugliani R.

Genet Mol Res. 2012 Aug 13;11(3):2352-9. doi: 10.4238/2012.August.13.9.

17.

Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis.

Yesilipek AM, Akcan M, Karasu G, Uygun V, Kupesiz A, Hazar V.

Pediatr Transplant. 2012 Nov;16(7):779-82. doi: 10.1111/j.1399-3046.2012.01763.x. Epub 2012 Jul 8.

PMID:
22775975
18.

Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients.

Hallas P, Borgwardt LG, Roed J, Lauritsen T, Dali CI, Lund AM.

Paediatr Anaesth. 2011 Dec;21(12):1269-70. doi: 10.1111/j.1460-9592.2011.03668.x. No abstract available.

PMID:
22023421
19.

Retinal dystrophy in 2 brothers with α-Mannosidosis.

Courtney RJ, Pennesi ME.

Arch Ophthalmol. 2011 Jun;129(6):799-802. doi: 10.1001/archophthalmol.2011.134. No abstract available.

PMID:
21670350
20.

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.

Mynarek M, Tolar J, Albert MH, Escolar ML, Boelens JJ, Cowan MJ, Finnegan N, Glomstein A, Jacobsohn DA, Kühl JS, Yabe H, Kurtzberg J, Malm D, Orchard PJ, Klein C, Lücke T, Sykora KW.

Bone Marrow Transplant. 2012 Mar;47(3):352-9. doi: 10.1038/bmt.2011.99. Epub 2011 May 9.

PMID:
21552297

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