المؤلفون: Lipiński, Patryk¹ (AUTHOR) patryk.lipinski.92@gmail.com, Tylki-Szymańska, Anna² (AUTHOR) a.tylki@ipczd.pl

المصدر: Diagnostics (2075-4418). Jun2024, Vol. 14 Issue 12, p1299. 11p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *SYMPTOMS, *GLYCOGEN storage disease type II, *NIEMANN-Pick diseases, *GAUCHER'S disease, *LIVER

المؤلفون: Xia, Jianhong¹ (AUTHOR) jhxia2006@163.com, Wang, Haiyun^1,2 (AUTHOR) sunny.haiyun@gmail.com, Zhong, Zhihang^3,4 (AUTHOR) zhongzhihanggood@163.com, Jiang, Jun^3,4 (AUTHOR) jiangjun@scau.edu.cn

المصدر: Cells (2073-4409). Jun2024, Vol. 13 Issue 11, p953. 18p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MTOR inhibitors, *CELL culture, *BRACHYDANIO, *HOMEOSTASIS

المؤلفون: Kuznetsov, Alexander¹ (AUTHOR), Sheshil, Andrey¹ (AUTHOR), Smolin, Eugene¹ (AUTHOR), Grudtsov, Vitaliy¹ (AUTHOR), Ryazantsev, Dmitriy¹ (AUTHOR), Shustinskiy, Mark¹ (AUTHOR), Tikhonova, Tatiana¹ (AUTHOR), Kitiashvili, Irakli² (AUTHOR), Vechorko, Valerii² (AUTHOR), Komarova, Natalia¹ (AUTHOR) nat.v.kom@gmail.com

المصدر: Sensors (14248220). Jun2024, Vol. 24 Issue 11, p3681. 12p.

مصطلحات موضوعية: *FIELD-effect transistors, *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ENZYME replacement therapy, *NEWBORN screening, *COMPLEMENTARY metal oxide semiconductors

المؤلفون: Farhat, Nicole Y.¹ (AUTHOR) nicole.farhat@nih.gov, Alexander, Derek¹ (AUTHOR) derek.alexander@nih.gov, McKee, Kyli¹ (AUTHOR) kyli.a.mckee@gmail.com, Iben, James² (AUTHOR) james.iben@nih.gov, Rodriguez-Gil, Jorge L.³ (AUTHOR) jrgil@stanford.edu, Wassif, Christopher A.¹ (AUTHOR) christopher.wassif@astrazeneca.com, Cawley, Niamh X.¹ (AUTHOR) cawleyn@mail.nih.gov, Balch, William E.⁴ (AUTHOR) webalch@scripps.edu, Porter, Forbes D.¹ (AUTHOR) fdporter@mail.nih.gov

المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 8, p4217. 14p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *GENE expression, *NATURAL history, *AGE of onset

المؤلفون: Servín Muñoz, Iris Valeria¹ (AUTHOR) iris.servin@alumnos.udg.mx, Ortuño-Sahagún, Daniel¹ (AUTHOR) daniel.ortuno@academicos.udg.mx, Griñán-Ferré, Christian^2,3 (AUTHOR) christian.grinan@ub.edu, Pallàs, Mercè^2,3 (AUTHOR) pallas@ub.edu, González-Castillo, Celia⁴ (AUTHOR) daniel.ortuno@academicos.udg.mx

المصدر: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3806. 17p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *HISTONE deacetylase inhibitors, *MUTANT proteins, *PROTEIN folding, *ALZHEIMER'S disease

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: Mîndru, Dana Elena¹ (AUTHOR) mindru.dana@umfiasi.ro, Țarcă, Elena² (AUTHOR) elena.tuluc@umfiasi.ro, Braha, Elena Emanuela³ (AUTHOR) elenabraha@yahoo.com, Curpăn, Alexandrina-Ștefania⁴ (AUTHOR) elena.tuluc@umfiasi.ro, Roșu, Solange Tamara⁵ (AUTHOR) rosusolange@yahoo.com, Anton-Păduraru, Dana-Teodora¹ (AUTHOR) dana.anton@umfiasi.ro, Adumitrăchioaiei, Heidrun¹ (AUTHOR) ad.heidi91@gmail.com, Bernic, Valentin⁶ (AUTHOR) bernicvalik@yahoo.com, Pădureț, Ioana-Alexandra⁷ (AUTHOR) paduret.alexandra@gmail.com, Luca, Alina Costina¹ (AUTHOR) acluca@yahoo.com

المصدر: Diagnostics (2075-4418). Mar2024, Vol. 14 Issue 5, p491. 9p.

مصطلحات موضوعية: *CONGENITAL heart disease, *LYSOSOMAL storage diseases, *FIBRODYSPLASIA ossificans progressiva, *SYMPTOMS, *SKELETAL abnormalities, *GENETIC mutation

المؤلفون: Hay Mele, Bruno¹ (AUTHOR) bruno.haymele@unina.it, Rossetti, Federica¹ (AUTHOR) fed.rossetti@studenti.unina.it, Cubellis, Maria Vittoria^1,2,3 (AUTHOR) cubellis@unina.it, Monticelli, Maria^1,2 (AUTHOR) m.monticelli@icb.cnr.it, Andreotti, Giuseppina² (AUTHOR)

المصدر: Genes. Mar2024, Vol. 15 Issue 3, p290. 17p.

مصطلحات موضوعية: *DRUG repositioning, *LYSOSOMAL storage diseases, *DRUG analysis, *GLYCOLIPIDS, *DRUG efficacy, *METABOLIC disorders

المؤلفون: Csorba, Anita¹ (AUTHOR) csorba.anita@semmelweis-univ.hu, Katona, Gábor² (AUTHOR), Budai-Szűcs, Mária² (AUTHOR), Balogh-Weiser, Diána³ (AUTHOR), Molnár, Péter⁴ (AUTHOR), Maka, Erika¹ (AUTHOR), Kazsoki, Adrienn⁵ (AUTHOR), Vajna, Márton⁵ (AUTHOR), Zelkó, Romána⁵ (AUTHOR), Nagy, Zoltán Zsolt¹ (AUTHOR), Balogh, György T.⁶ (AUTHOR) csorba.anita@semmelweis-univ.hu

المصدر: International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 3, p1623. 14p.

مصطلحات موضوعية: *EYE drops, *LYSOSOMAL storage diseases, *ORPHANS, *MEMBRANE permeability (Biology), *ARTIFICIAL membranes