المؤلفون: Li, Joyce Wai-Yin¹ (AUTHOR), Yan, Kevin¹ (AUTHOR), Balijepalli, Chakrapani¹ (AUTHOR), Druyts, Eric¹ (AUTHOR) eric.druyts@pharmalyticsgroup.com

المصدر: Current Medical Research & Opinion. Apr2024, Vol. 40 Issue 4, p709-722. 14p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *SOCIAL skills, *GLYCOGEN storage disease type II

المؤلفون: Pierzynowska, Karolina¹ (AUTHOR), Deresz, Patrycja¹ (AUTHOR), Węgrzyn, Grzegorz¹ (AUTHOR), Gaffke, Lidia¹ (AUTHOR) lidia.gaffke@ug.edu.pl

المصدر: Metabolic Brain Disease. Aug2023, Vol. 38 Issue 6, p2133-2144. 12p.

مصطلحات موضوعية: *GENETIC code, *LYSOSOMAL storage diseases, *TRANSCRIPTOMES, *PROTEINS, *METABOLIC disorders

المؤلفون: Sato, Vitor Neves, Moriwaki, Tatiane Lumi, do Amaral e Castro, Adham, da Rocha Correa Fernandes, Artur, Guimaraes, Julio Brandao

المصدر: Skeletal Radiology; Jun2024, Vol. 53 Issue 6, p1211-1217, 7p

مصطلحات موضوعية: GLYCOGEN storage disease type II, CARPAL tunnel syndrome, LYSOSOMAL storage diseases, WRIST joint, MAGNETIC resonance imaging, MUCOPOLYSACCHARIDOSIS, JOINT stiffness

المؤلفون: Spiewak, Justyna¹ (AUTHOR) j.spiewak@ucl.ac.uk, Doykov, Ivan¹ (AUTHOR) i.doykov@ucl.ac.uk, Papandreou, Apostolos^1,2,3 (AUTHOR) apostolos.papandreou@alumni.ucl.ac.uk, Hällqvist, Jenny¹ (AUTHOR) j.hallqvist@ucl.ac.uk, Mills, Philippa¹ (AUTHOR) p.mills@ucl.ac.uk, Clayton, Peter T.¹ (AUTHOR) peter.clayton@ucl.ac.uk, Gissen, Paul^1,4 (AUTHOR) p.gissen@ucl.ac.uk, Mills, Kevin¹ (AUTHOR) kevin.mills@ucl.ac.uk, Heywood, Wendy E.¹ (AUTHOR) kevin.mills@ucl.ac.uk

المصدر: International Journal of Molecular Sciences. Jun2023, Vol. 24 Issue 12, p10177. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LIQUID chromatography-mass spectrometry, *ANGIOKERATOMA corporis diffusum, *NIEMANN-Pick diseases, *GAUCHER'S disease

المؤلفون: Guffon, Nathalie¹ (AUTHOR) nathalie.guffon-fouilhoux@chu-lyon.fr, Genevaz, Delphine² (AUTHOR), Lacombe, Didier³ (AUTHOR), Le Peillet Feuillet, Eliane⁴ (AUTHOR), Bausson, Pascale⁵ (AUTHOR), Noel, Esther⁶ (AUTHOR), Maillot, François⁷ (AUTHOR), Belmatoug, Nadia⁸ (AUTHOR), Jaussaud, Roland⁹ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 12/23/2022, Vol. 17 Issue 1, p1-12. 12p.

مصطلحات موضوعية: *CAREGIVERS, *LYSOSOMAL storage diseases, *ENZYME replacement therapy, *CATALYTIC activity

مصطلحات جغرافية: FRANCE

المؤلفون: Grabowski, Gregory A.^1,2 (AUTHOR) grabgo317@comcast.net, Mistry, Pramod K.³ (AUTHOR)

المصدر: Molecular Genetics & Metabolism. Sep2022, Vol. 137 Issue 1/2, p81-91. 11p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *GLYCOGEN storage disease type II

المؤلفون: Carvalho, S., Santos, J.I., Moreira, L., Gaspar, P., Gonçalves, M., Encarnação, M., Ribeiro, D., Duarte, A., Prata, M.J., Coutinho, M.F., Alves, Sandra

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Genetic Disorders, Mucopolysaccharidoses, Glycosaminoglycans, Lysosomal Storage Diseases, Genética Humana, Doenças Genéticas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/9149Test

المؤلفون: Terai, Hidetomi¹ (AUTHOR), Tamai, Koji¹ (AUTHOR) koji.tamai.707@gmail.com, Hoshino, Masatoshi¹ (AUTHOR), Toyoda, Hiromitsu¹ (AUTHOR), Suzuki, Akinobu¹ (AUTHOR), Takahashi, Shinji¹ (AUTHOR), Hori, Yusuke¹ (AUTHOR), Yabu, Akito¹ (AUTHOR), Nakamura, Hiroaki¹ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 9/28/2021, Vol. 16 Issue 1, p1-10. 10p.

مصطلحات موضوعية: *LONGITUDINAL ligaments, *LYSOSOMAL storage diseases, *TREATMENT effectiveness, *CERVICAL spondylotic myelopathy, *MUCOPOLYSACCHARIDOSIS, *LAMINOPLASTY

المؤلفون: Soares, Luís Dias Ferreira^1,2,3 (AUTHOR), Villalba Silva, Gerda Cristal^2,3,4 (AUTHOR), Kubaski, Francyne^5,6,7 (AUTHOR), Giugliani, Roberto^2,5,6,7 (AUTHOR), Matte, Ursula^1,2,3,4,5 (AUTHOR) umatte@hcpa.edu.br

المصدر: Molecular Genetics & Metabolism. Aug2021, Vol. 133 Issue 4, p372-377. 6p.

مصطلحات موضوعية: *DOGS, *LYSOSOMAL storage diseases, *DATA processing service centers, *MEDICAL personnel, *ENZYME deficiency, *ONTOLOGIES (Information retrieval)

المؤلفون: Lopes, Nuno, Maia, Maria L., Pereira, Cátia S., Mondragão-Rodrigues, Inês, Martins, Esmeralda, Ribeiro, Rosa, Gaspar, Ana, Aguiar, Patrício, Garcia, Paula, Cardoso, Maria Teresa, Rodrigues, Esmeralda, Leão-Teles, Elisa, Giugliani, Roberto, Coutinho, Maria F., Alves, Sandra, Macedo, M. Fátima

المصدر: Biomedicines; Jun2023, Vol. 11 Issue 6, p1699, 14p

مصطلحات موضوعية: T helper cells, CYTOTOXIC T cells, LYSOSOMAL storage diseases, LEUCOCYTES, DERMATAN sulfate