المؤلفون: Guan, Lihong, Jia, Zisen, Xu, Keli, Yang, Minlin, Li, Xiaoying, Qiao, Liang, Liu, Yanli, Lin, Juntang

المصدر: Animal Genetics; Feb2024, Vol. 55 Issue 1, p99-109, 11p

مصطلحات موضوعية: WNT signal transduction, RENAL fibrosis, CELLULAR signal transduction, GENETIC mutation, LIPIDOSES, LYSOSOMAL storage diseases

المؤلفون: Furderer, Makaila L., Berhe, Bahafta, Chen, Tiffany C., Wincovitch, Stephen, Jiang, Xuntian, Tayebi, Nahid, Sidransky, Ellen, Han, Tae-Un

المصدر: International Journal of Molecular Sciences; Feb2024, Vol. 25 Issue 3, p1827, 15p

مصطلحات موضوعية: GAUCHER'S disease, DOPAMINERGIC neurons, LYSOSOMAL storage diseases

المؤلفون: Keller, Stefan H., Johnson, Gary S., Bullock, Garrett, Mhlanga-Mutangadura, Tendai, Schwartz, Malte, Pattridge, Savannah G., Guo, Juyuan, Kortz, Gregg D., Katz, Martin L.

المصدر: Genes; Feb2024, Vol. 15 Issue 2, p246, 27p

مصطلحات موضوعية: MYELIN proteins, MYELIN, NEURONAL ceroid-lipofuscinosis, LYSOSOMAL storage diseases, NEUROLOGICAL disorders, MYOCARDIUM

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

العنوان البديل: Hearing loss in patients with Fabry disease.

المؤلفون: Nováčková, H.^1,2 novackova.hanka@gmail.com, Coufal, Š.³, Radilová, M.², Kaňa, R.²

المصدر: Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie. 2023, Vol. 72 Issue 2, p65-71. 7p.

مصطلحات موضوعية: *SENSORINEURAL hearing loss, *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *PATIENTS, *HEARING disorders, *CONDUCTIVE hearing loss, *GLYCOGEN storage disease type II

المؤلفون: Yuzhao Liu^1,2, Xiangli Zhao¹, Jinlong Jian¹, Hasan, Sadaf¹, Chuanju Liu^1,3

المصدر: BioScience Trends. Apr2023, Vol. 17 Issue 2, p126-135. 10p.

مصطلحات موضوعية: *GAUCHER'S disease, *LYSOSOMAL storage diseases, *PROTEIN disulfide isomerase, *HEAT shock proteins, *PROGRANULIN, *MASS spectrometry

المؤلفون: Hallows, William C.¹ (AUTHOR) william.hallows@codexis.com, Skvorak, Kristen¹ (AUTHOR), Agard, Nick^1,2 (AUTHOR), Kruse, Nikki¹ (AUTHOR), Zhang, Xiyun^1,3 (AUTHOR), Zhu, Yu¹ (AUTHOR), Botham, Rachel C.¹ (AUTHOR), Chng, Chinping¹ (AUTHOR), Shukla, Charu¹ (AUTHOR), Lao, Jessica^1,4 (AUTHOR), Miller, Mathew¹ (AUTHOR), Sero, Antoinette¹ (AUTHOR), Viduya, Judy¹ (AUTHOR), Ismaili, Moulay Hicham Alaoui^1,5 (AUTHOR), McCluskie, Kerryn^1,5 (AUTHOR), Schiffmann, Raphael^6,7 (AUTHOR), Silverman, Adam P.¹ (AUTHOR), Shen, Jin-Song^6,7 (AUTHOR), Huisman, Gjalt W.¹ (AUTHOR)

المصدر: Scientific Reports. 3/23/2023, Vol. 13 Issue 1, p1-16. 16p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *AMINO acid residues, *GALACTOSIDASES, *THERAPEUTICS, *HEART, *AMINO acid sequence

المؤلفون: Papini, Nadia¹ (AUTHOR), Todisco, Roberta¹ (AUTHOR), Giussani, Paola¹ (AUTHOR), Dei Cas, Michele² (AUTHOR), Paroni, Rita² (AUTHOR), Giallanza, Chiara¹ (AUTHOR), Tringali, Cristina¹ (AUTHOR) cristina.tringali@unimi.it

المصدر: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5984. 19p.

مصطلحات موضوعية: *AUTOPHAGY, *LYSOSOMAL storage diseases, *PHOSPHORYLATION, *NEURODEGENERATION

المؤلفون: Banning, Antje¹ (AUTHOR), Laine, Minna² (AUTHOR), Tikkanen, Ritva¹ (AUTHOR) ritva.tikkanen@biochemie.med.uni-giessen.de

المصدر: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5722. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *BIOMARKERS, *SERUM, *GENETIC disorders, *TREATMENT effectiveness, *CLINICAL trials

المؤلفون: Chis, Bogdan Augustinq¹ bogdan_a_chis@yahoo.com, Ismaiel, Abdulrahman¹, Chis, Ana-Florica²

المصدر: Journal of Gastrointestinal & Liver Diseases. Mar2023, Vol. 32 Issue 1, p86-91. 6p.

مصطلحات موضوعية: *BONE marrow, *LYSOSOMAL storage diseases, *MAGNETIC resonance imaging, *GAUCHER'S disease, *GLYCOGEN storage disease type II

مصطلحات جغرافية: ROMANIA