المؤلفون: Heroor, Aniruddh, Verma, Anshuman, Achanta, Divya Sree, Edward, Deepak Paul, Ramappa, Muralidhar

المصدر: Journal of Rare Diseases; 6/25/2024, Vol. 3 Issue 1, p1-12, 12p

مصطلحات موضوعية: CYSTINOSIS, OPTICAL coherence tomography, CONFOCAL microscopy, LYSOSOMAL storage diseases, POLYURIA

مصطلحات جغرافية: INDIA

المؤلفون: Zhao, Boyang, Cao, Zhongzheng, Zheng, Yi, Nguyen, Phuong, Bowen, Alisa, Edwards, Robert H., Stroud, Robert M., Zhou, Yi, Van Lookeren Campagne, Menno, Li, Fei

المصدر: Nature Communications; 6/25/2024, Vol. 15 Issue 1, p1-10, 10p

مصطلحات موضوعية: SANFILIPPO syndrome, LYSOSOMAL storage diseases, DRUG discovery, ACETYL group, ENZYMES, ACETYLCOENZYME A

المؤلفون: Liqiong Ding

المصدر: Frontiers in Pharmacology; 2024, p1-4, 4p

مصطلحات موضوعية: LYSOSOMAL storage diseases, CLINICAL pathology, LUNG cancer, TUMOR growth

المؤلفون: Cen, Jianke, Hu, Nan, Shen, Jiawen, Gao, Yongjing, Lu, Huanjun

المصدر: International Journal of Molecular Sciences; Jun2024, Vol. 25 Issue 12, p6565, 22p

مصطلحات موضوعية: ION channels, CENTRAL nervous system, LYSOSOMAL storage diseases, DRUG target, GENETIC variation, NEURODEGENERATION

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: Yi, Mengni, Shen, Pinquan, Zhang, Huiwen

المصدر: BMC Medical Genomics; 6/3/2024, Vol. 17 Issue 1, p1-9, 9p

مصطلحات موضوعية: DELAYED diagnosis, MUCOPOLYSACCHARIDOSIS, LYSOSOMAL storage diseases, SKELETAL abnormalities, SYMPTOMS, GLYCOGEN storage disease type II, FIBRODYSPLASIA ossificans progressiva

المؤلفون: Moon, Stephanie S., Ovens, Christopher A., Reid, Gerard, Fraser, Clare L.

المصدر: Neuro-Ophthalmology; Jun2024, Vol. 48 Issue 3, p198-203, 6p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, GLYCOGEN storage disease type II, OPTICAL coherence tomography, CHRONIC kidney failure, LYSOSOMAL storage diseases, HEART failure, TREATMENT delay (Medicine)

المؤلفون: Capelli, Irene, Di Costanzo, Roberta, Aiello, Valeria, Lerario, Sarah, De Giovanni, Paola, Montevecchi, Marcello, Cerretani, Davide, Donadio, Vincenzo, La Manna, Gaetano, Mignani, Renzo

المصدر: Molecular Genetics & Genomic Medicine; Jun2024, Vol. 12 Issue 6, p1-6, 6p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, GENETIC variation, LYSOSOMAL storage diseases, SYMPTOMS, GLYCOSPHINGOLIPIDS

المؤلفون: Calzoni, Eleonora, Cerrotti, Giada, Sagini, Krizia, Delo, Federica, Buratta, Sandra, Pellegrino, Roberto Maria, Alabed, Husam B. R., Fratini, Federica, Emiliani, Carla, Urbanelli, Lorena

المصدر: Journal of Functional Biomaterials; Jun2024, Vol. 15 Issue 6, p153, 13p

مصطلحات موضوعية: EXTRACELLULAR vesicles, ENZYME replacement therapy, LYSOSOMAL storage diseases, ENZYME deficiency, THERAPEUTICS, POLYMERSOMES

المؤلفون: Montanari, Chiara, Tagi, Veronica Maria, D'Auria, Enza, Guaia, Vincenzo, Di Gallo, Anna, Ghezzi, Michele, Verduci, Elvira, Fiori, Laura, Zuccotti, Gianvincenzo

المصدر: Children; Jun2024, Vol. 11 Issue 6, p668, 22p

مصطلحات موضوعية: TREATMENT of rare diseases, LUNG disease diagnosis, LUNG disease treatment, DIFFERENTIAL diagnosis, RARE diseases, NIEMANN-Pick diseases, GAUCHER'S disease, MUCOPOLYSACCHARIDOSIS, SYSTEMATIC reviews, MEDLINE, GLYCOGEN storage disease, LUNG diseases, ONLINE information services, LYSOSOMAL storage diseases