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

Line Gutte Borgwardt; Christine I. Dali; J Fogh; Joan Månsson; K J Olsen; Helle Beck; K G Nielsen; L H Nielsen; S O E Olsen; H M F Riise Stensland; O Nilssen; F Wibrand; Anne-Marie Thuesen; T Pearl; U Haugsted; P Saftig; J Blanz; Sheila Jones; A Tylki-Szymanska; N Guffon-Fouiloux; Marie Valentin Beck; A M Lund

doi:10.1007/s10545-013-9595-1

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

Line Gutte Borgwardt , Christine I. Dali, J Fogh, Joan Månsson, K J Olsen, Helle Beck, K G Nielsen, L H Nielsen, S O E Olsen, H M F Riise Stensland, O Nilssen, F Wibrand, Anne-Marie Thuesen, T Pearl, U Haugsted, P Saftig, J Blanz, Sheila Jones, A Tylki-Szymanska, N Guffon-FouilouxMarie Valentin Beck, A M Lund

44 Citationer (Scopus)

Abstract

Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include intellectual disabilities, facial characteristics and hearing impairment. A recombinant human alpha-mannosidase (rhLAMAN) has been developed for weekly intravenous enzyme replacement therapy (ERT). We present the preliminary data after 12 months of treatment.

Originalsprog	Engelsk
Tidsskrift	Journal of Inherited Metabolic Disease
Vol/bind	36
Udgave nummer	6
Sider (fra-til)	1015-24
Antal sider	10
ISSN	0141-8955
DOI	https://doi.org/10.1007/s10545-013-9595-1
Status	Udgivet - nov. 2013

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10.1007/s10545-013-9595-1

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Borgwardt , L. G., Dali, C. I., Fogh, J., Månsson, J., Olsen, K. J., Beck, H., Nielsen, K. G., Nielsen, L. H., Olsen, S. O. E., Riise Stensland, H. M. F., Nilssen, O., Wibrand, F., Thuesen, A.-M., Pearl, T., Haugsted, U., Saftig, P., Blanz, J., Jones, S., Tylki-Szymanska, A., ... Lund, A. M. (2013). Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. Journal of Inherited Metabolic Disease, 36(6), 1015-24. https://doi.org/10.1007/s10545-013-9595-1

Borgwardt , LG , Dali, CI, Fogh, J, Månsson, J, Olsen, KJ, Beck, H, Nielsen, KG, Nielsen, LH, Olsen, SOE, Riise Stensland, HMF, Nilssen, O, Wibrand, F, Thuesen, A-M, Pearl, T, Haugsted, U, Saftig, P, Blanz, J, Jones, S, Tylki-Szymanska, A, Guffon-Fouiloux, N, Beck, MV & Lund, AM 2013, 'Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study', Journal of Inherited Metabolic Disease, bind 36, nr. 6, s. 1015-24. https://doi.org/10.1007/s10545-013-9595-1

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

abstract = "Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include intellectual disabilities, facial characteristics and hearing impairment. A recombinant human alpha-mannosidase (rhLAMAN) has been developed for weekly intravenous enzyme replacement therapy (ERT). We present the preliminary data after 12 months of treatment.",

author = "Borgwardt, {Line Gutte} and Dali, {Christine I.} and J Fogh and Joan M{\aa}nsson and Olsen, {K J} and Helle Beck and Nielsen, {K G} and Nielsen, {L H} and Olsen, {S O E} and {Riise Stensland}, {H M F} and O Nilssen and F Wibrand and Anne-Marie Thuesen and T Pearl and U Haugsted and P Saftig and J Blanz and Sheila Jones and A Tylki-Szymanska and N Guffon-Fouiloux and Beck, {Marie Valentin} and Lund, {A M}",

year = "2013",

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doi = "10.1007/s10545-013-9595-1",

language = "English",

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TY - JOUR

T1 - Enzyme replacement therapy for alpha-mannosidosis

T2 - 12 months follow-up of a single centre, randomised, multiple dose study

AU - Borgwardt , Line Gutte

AU - Dali, Christine I.

AU - Fogh, J

AU - Månsson, Joan

AU - Olsen, K J

AU - Beck, Helle

AU - Nielsen, K G

AU - Nielsen, L H

AU - Olsen, S O E

AU - Riise Stensland, H M F

AU - Nilssen, O

AU - Wibrand, F

AU - Thuesen, Anne-Marie

AU - Pearl, T

AU - Haugsted, U

AU - Saftig, P

AU - Blanz, J

AU - Jones, Sheila

AU - Tylki-Szymanska, A

AU - Guffon-Fouiloux, N

AU - Beck, Marie Valentin

AU - Lund, A M

PY - 2013/11

Y1 - 2013/11

N2 - Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include intellectual disabilities, facial characteristics and hearing impairment. A recombinant human alpha-mannosidase (rhLAMAN) has been developed for weekly intravenous enzyme replacement therapy (ERT). We present the preliminary data after 12 months of treatment.

AB - Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include intellectual disabilities, facial characteristics and hearing impairment. A recombinant human alpha-mannosidase (rhLAMAN) has been developed for weekly intravenous enzyme replacement therapy (ERT). We present the preliminary data after 12 months of treatment.

U2 - 10.1007/s10545-013-9595-1

DO - 10.1007/s10545-013-9595-1

M3 - Journal article

C2 - 23494656

SN - 0141-8955

VL - 36

SP - 1015

EP - 1024

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -

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

Abstract

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