المؤلفون: Thomas, Sophie¹ (AUTHOR), Morrison, Alexandra² (AUTHOR) a.morrison@rd-rp.com, Morton, Georgina³ (AUTHOR), Roberts, Pat³ (AUTHOR), Clark, Vivienne⁴ (AUTHOR), Imrie, Jackie⁴ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 2/25/2024, Vol. 19 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *CAREGIVERS, *LYSOSOMAL storage diseases, *HEMATOPOIETIC stem cells, *SYMPTOM burden, *PATIENTS

مصطلحات جغرافية: UNITED Kingdom, IRELAND

المؤلفون: Chang, Shun-Chiao¹ (AUTHOR) shun-chiao.chang@takeda.com, Bergamasco, Aurore² (AUTHOR), Bonnin, Mélanie² (AUTHOR), Bisonó, Teigna Arredondo² (AUTHOR), Moride, Yola³ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 2/21/2024, Vol. 19 Issue 1, p1-15. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LEUKODYSTROPHY, *GENETIC disorders, *ARYLSULFATASES, *INVESTIGATIONAL drugs

مصطلحات جغرافية: MIDDLE East

المؤلفون: Muenzer, Joseph¹ (AUTHOR) muenzer@med.unc.edu, Burton, Barbara K.² (AUTHOR), Amartino, Hernan M.³ (AUTHOR), Harmatz, Paul R.⁴ (AUTHOR), Gutiérrez-Solana, Luis González⁵ (AUTHOR), Ruiz-Garcia, Matilde⁶ (AUTHOR), Wu, Yuna⁷ (AUTHOR), Merberg, David⁸ (AUTHOR), Alexanderian, David^7,9 (AUTHOR), Jones, Simon A.¹⁰ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 11/16/2023, Vol. 18 Issue 1, p1-19. 19p.

مصطلحات موضوعية: *CHILD patients, *LYSOSOMAL storage diseases, *MUCOPOLYSACCHARIDOSIS, *NEURAL development, *CENTRAL nervous system

المؤلفون: Solomon, Beth I., Muñoz, Andrea M., Sinaii, Ninet, Mohamed, Hibaaq, Farhat, Nicole M., Alexander, Derek, Do, An Dang, Porter, Forbes D.

المصدر: Orphanet Journal of Rare Diseases; 6/11/2024, Vol. 19 Issue 1, p1-10, 10p

مصطلحات موضوعية: DEGLUTITION, NIEMANN-Pick diseases, NATURAL history, VISCOSITY, LYSOSOMAL storage diseases, CEREBROSPINAL fluid

المؤلفون: Jovanovic, Ana, Miller-Hodges, Eve, Castriota, Felicia, Takyar, Shweta, Howitt, Heena, Ayodele, Olulade

المصدر: Orphanet Journal of Rare Diseases; 4/30/2024, Vol. 19, p1-37, 37p

مصطلحات موضوعية: QUALITY of life, ANGIOKERATOMA corporis diffusum, LYSOSOMAL storage diseases, ECONOMIC aspects of diseases, ECONOMIC databases

الشركة/الكيان: GREAT Britain. National Health Service

المؤلفون: Mengel, Eugen, Muschol, Nicole, Weinhold, Natalie, Ziagaki, Athanasia, Neugebauer, Julia, Antoni, Benno, Langer, Laura, Gasparic, Maja, Guillonneau, Sophie, Fournier, Marie, Laredo, Fernando, Pulikottil-Jacob, Ruth

المصدر: Orphanet Journal of Rare Diseases; 4/13/2024, Vol. 19 Issue 1, p1-11, 11p

مصطلحات موضوعية: NIEMANN-Pick diseases, ETIOLOGY of diseases, LYSOSOMAL storage diseases, MORTALITY, SURVIVAL rate

مصطلحات جغرافية: GERMANY

المؤلفون: Yee, Karen S., Alexanderian, David, Martin, Susan, Olayinka-Amao, Bimpe, Whiteman, David A. H.

المصدر: Orphanet Journal of Rare Diseases; 4/12/2024, Vol. 19 Issue 1, p1-11, 11p

مصطلحات موضوعية: PATIENTS' attitudes, MEDICAL research personnel, LYSOSOMAL storage diseases, MUCOPOLYSACCHARIDOSIS, MISSENSE mutation

المؤلفون: Mignani, Renzo, Americo, Claudio, Aucella, Filippo, Battaglia, Yuri, Cianci, Vittoria, Sapuppo, Annamaria, Lanzillo, Chiara, Pennacchiotti, Fabio, Tartaglia, Luciano, Marchi, Giacomo, Pieruzzi, Federico

المصدر: Orphanet Journal of Rare Diseases; 2/2/2024, Vol. 19 Issue 1, p1-9, 9p

مصطلحات موضوعية: ANTIBODY formation, X chromosome, LYSOSOMAL storage diseases, ENZYME replacement therapy, ANGIOKERATOMA corporis diffusum, MEDICAL needs assessment

مصطلحات جغرافية: EUROPE

المؤلفون: Schwab, Marisa E, Brown, Julia EH, Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C, Gallagher, Renata C, Harmatz, Paul, MacKenzie, Tippi C

المصدر: Orphanet Journal of Rare Diseases. 17(1)

مصطلحات موضوعية: Genetics, Orphan Drug, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, Pediatric, Good Health and Well Being, Attitude, Clinical Trials, Phase I as Topic, Enzyme Replacement Therapy, Female, Fetal Therapies, Glycogen Storage Disease Type II, Humans, Lysosomal Storage Diseases, Parents, Pregnancy, Surveys and Questionnaires, Lysosomal storage disease, Mucopolysaccharidosis, Fetal therapy, Enzyme replacement therapy, Gene therapy, Patient attitudes, Clinical trial, ELSI (ethical, legal and social implications), ELSI, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79c7w0mvTest

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