المؤلفون: Álvarez, J. Victor.^1,2 (AUTHOR) jose.victor.alvarez.gonzalez@sergas.es, Bravo, Susana B.³ (AUTHOR) sbbravo@gmail.com, Chantada-Vázquez, María Pilar³ (AUTHOR) mariadelpilarchantadavazquez@gmail.com, Pena, Carmen³ (AUTHOR) carmen.pena.pena@sergas.es, Colón, Cristóbal^1,2 (AUTHOR) cristobal.colon.mejeras@sergas.es, Tomatsu, Shunji⁴ (AUTHOR) stomatsu@nemours.org, Otero-Espinar, Francisco J.^5,6 (AUTHOR) francisco.otero@usc.es, Couce, María L.^1,2 (AUTHOR) maria.luz.couce.pico@sergas.es

المصدر: International Journal of Molecular Sciences. Mar2024, Vol. 25 Issue 6, p3232. 28p.

مصطلحات موضوعية: *MOLECULAR interactions, *LYSOSOMAL storage diseases, *KNOCKOUT mice, *ENZYME deficiency, *REACTIVE oxygen species, *LACTATE dehydrogenase, *SULFATASES, *BLOOD coagulation factor XIII

المؤلفون: Jerves Serrano, Teodoro¹ (AUTHOR) teodoro.jervesserrano@yale.edu, Gold, Jessica² (AUTHOR) goldj@chop.edu, Cooper, James A.³ (AUTHOR) james.cooper@mft.nhs.uk, Church, Heather J.³ (AUTHOR) heather.church@mft.nhs.uk, Tylee, Karen L.³ (AUTHOR) karen.tylee@mft.nhs.uk, Wu, Hoi Yee³ (AUTHOR) hoiyee.wu@mft.nhs.uk, Kim, Sun Young⁴ (AUTHOR) sunyoung.kim@cchmc.org, Stepien, Karolina M.^5,6 (AUTHOR) teodoro.jervesserrano@yale.edu

المصدر: Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1465. 19p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LIFE expectancy, *GLYCOGEN storage disease type II, *DIAGNOSIS, *MEMBRANE proteins, *METABOLIC disorders, *HEPATOMEGALY

المؤلفون: Vernet Machado Bressan Wilke, Matheus, Iop, Gabrielle Dineck, Faqueti, Larissa, Lemos da Silva, Layzon Antonio, Kubaski, Francyne, Poswar, Fabiano O., Michelin-Tirelli, Kristiane, Randon, Dévora, Borelli, Wyllians Vendramini, Giugliani, Roberto, Schwartz, Ida Vanessa D.

المصدر: International Journal of Molecular Sciences; Mar2024, Vol. 25 Issue 5, p2870, 14p

مصطلحات موضوعية: CEREBROSPINAL fluid examination, GAUCHER'S disease, LYSOSOMAL storage diseases, CEREBROSPINAL fluid, BIOMARKERS, B cells, ETHYL acetate

الشركة/الكيان: MICROSOFT Corp.

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: Boutin, Michel¹ (AUTHOR), Lavoie, Pamela¹ (AUTHOR), Beaudon, Margot² (AUTHOR), Kabala Ntumba, Georges¹ (AUTHOR), Bichet, Daniel G.³ (AUTHOR), Maranda, Bruno¹ (AUTHOR), Auray-Blais, Christiane¹ (AUTHOR) christiane.auray-blais@usherbrooke.ca

المصدر: International Journal of Molecular Sciences. Feb2023, Vol. 24 Issue 4, p3223. 16p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *BLOOD collection, *LIQUID chromatography-mass spectrometry, *MEDICAL screening

المؤلفون: Petrova, Ralitsa, Patil, Abhijeet R., Trinh, Vivian, McElroy, Kathryn E., Bhakta, Minoti, Tien, Jason, Wilson, David S., Warren, Liling, Stratton, Jennifer R.

المصدر: Scientific Reports; 11/20/2023, Vol. 13 Issue 1, p1-18, 18p

مصطلحات موضوعية: PATHOLOGY, LABORATORY mice, ANIMAL disease models, MUCOPOLYSACCHARIDOSIS, BIOMARKERS, LYSOSOMAL storage diseases, MICE

المؤلفون: Encarnação, Marisa, David, Hugo, Coutinho, Maria Francisca, Moreira, Luciana, Alves, Sandra

المصدر: Biomedicines; Oct2023, Vol. 11 Issue 10, p2615, 13p

مصطلحات موضوعية: LIPIDOSES, NIEMANN-Pick diseases, NON-coding RNA, MICRORNA, LYSOSOMAL storage diseases, GLYCOGEN storage disease type II

المؤلفون: Sangster, Madison, Shahriar, Sanjid, Niziolek, Zachary, Carisi, Maria Carla, Lewandowski, Michael, Budnik, Bogdan, Grishchuk, Yulia

المصدر: Frontiers in Molecular Neuroscience; 2023, p1-17, 17p

مصطلحات موضوعية: NEURAL stem cells, CENTRAL nervous system, PROTEOMICS, CELL populations, LYSOSOMAL storage diseases, LIPID metabolism, YOUNG adults

المؤلفون: Ivanova, Margarita M., Dao, Julia, Slayeh, Omar Abu, Friedman, Andrew, Goker-Alpan, Ozlem

المصدر: Cells (2073-4409); Aug2023, Vol. 12 Issue 16, p2102, 17p

مصطلحات موضوعية: VASCULAR endothelial growth factors, ANGIOKERATOMA corporis diffusum, FIBROBLAST growth factors, GALACTOSIDASES, CARDIAC magnetic resonance imaging, HYPERTROPHIC cardiomyopathy, LYSOSOMAL storage diseases

المؤلفون: Pergande, Melissa R.¹ (AUTHOR), Kang, Christina² (AUTHOR), George, Diann² (AUTHOR), Sutter, Pearl A.³ (AUTHOR), Crocker, Stephen J.³ (AUTHOR), Cologna, Stephanie M.^1,4 (AUTHOR), Givogri, Maria I.² (AUTHOR) mgivogri@uic.edu

المصدر: Lipids in Health & Disease. 3/29/2022, Vol. 21 Issue 1, p1-19. 19p.

مصطلحات موضوعية: *EXTRACELLULAR vesicles, *LYSOSOMAL storage diseases, *LEUKODYSTROPHY, *CERAMIDES, *BIOMARKERS