TY  - JOUR
AU  - Hennermann, Julia B
AU  - Guffon, Nathalie
AU  - Cattaneo, Federica
AU  - Ceravolo, Ferdinando
AU  - Borgwardt, Line
AU  - Lund, Allan M
AU  - Gil-Campos, Mercedes
AU  - Tylki-Szymanska, Anna
AU  - Muschol, Nicole M
PY  - 2020
DO  - 10.1186/s13023-020-01549-8
UR  - http://hdl.handle.net/10668/16346
T2  - Orphanet journal of rare diseases
AB  - Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during...
LA  - en
PB  - BioMed Central Ltd.
KW  - Alpha-mannosidosis
KW  - Enzyme-replacement therapy
KW  - Patient registry
KW  - Recombinant alpha-mannosidase
KW  - Velmanase alfa
KW  - Enzyme Replacement Therapy
KW  - Humans
KW  - Multicenter Studies as Topic
KW  - Prospective Studies
KW  - Registries
KW  - alpha-Mannosidase
KW  - alpha-Mannosidosis
TI  - The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.
TY  - research article
VL  - 15
ER  -