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: San Millán-Tejado, Beatriz^1,2,3 (AUTHOR) beatriz.san.millan.tejado@sergas.es, Navarro, Carmen² (AUTHOR), Fernández-Martín, Julián^1,4 (AUTHOR) alberto.rivera.gallego@sergas.es, Rivera, Alberto^4,5 (AUTHOR), Viéitez, Irene¹ (AUTHOR) susana.teijeira.bautista@sergas.es, Teijeira, Susana¹ (AUTHOR), Ortolano, Saida¹ (AUTHOR) beatriz.san.millan.tejado@sergas.es

المصدر: Journal of Clinical Medicine. Sep2023, Vol. 12 Issue 17, p5689. 16p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *SKIN biopsy, *GLYCOGEN storage disease type II, *BIOPSY

المؤلفون: Giacomarra, Miriam, Colomba, Paolo, Francofonte, Daniele, Zora, Marcomaria, Caocci, Giovanni, Diomede, Daniela, Giuffrida, Gaetano, Fiori, Laura, Montanari, Chiara, Sapuppo, Annamaria, Scortechini, Anna Rita, Vitturi, Nicola, Duro, Giovanni, Zizzo, Carmela

المصدر: Journal of Clinical Medicine; Mar2024, Vol. 13 Issue 5, p1487, 12p

مصطلحات موضوعية: NIEMANN-Pick diseases, GAUCHER'S disease, LYSOSOMAL storage diseases, GLYCOGEN storage disease type II, DIFFERENTIAL diagnosis, ENZYME replacement therapy

المؤلفون: Yang, Aram, Kim, Sinae, Choi, Yong Jun

المصدر: Journal of Clinical Medicine; Jan2024, Vol. 13 Issue 2, p479, 13p

مصطلحات موضوعية: MAJOR adverse cardiovascular events, ANGIOKERATOMA corporis diffusum, GLYCOGEN storage disease type II, ENZYME replacement therapy, LYSOSOMAL storage diseases, KOREANS

المؤلفون: Stankowski, Kamil, Figliozzi, Stefano, Battaglia, Vincenzo, Catapano, Federica, Francone, Marco, Monti, Lorenzo

المصدر: Journal of Clinical Medicine; Nov2023, Vol. 12 Issue 22, p7061, 14p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, HEART failure, HYPERTROPHIC cardiomyopathy, LYSOSOMAL storage diseases, LEFT ventricular hypertrophy, ENZYME replacement therapy

المؤلفون: Teodoro Jerves Serrano, Jessica Gold, James A. Cooper, Heather J. Church, Karen L. Tylee, Hoi Yee Wu, Sun Young Kim, Karolina M. Stepien

المصدر: Journal of Clinical Medicine, Vol 13, Iss 5, p 1465 (2024)

مصطلحات موضوعية: lysosomal storage diseases, hepatomegaly, splenomegaly, organomegaly, hepatosplenomegaly, biomarkers, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/13/5/1465Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/b8a40a1af51e45d9821ae56c0ceef124Test

المؤلفون: De Vuyst, Richard, Jalazo, Elizabeth, Tsujimoto, Tamy Moraes, Lin, Feng-Chang, Muenzer, Joseph, Muhlebach, Marianne S.

المصدر: Journal of Clinical Medicine; Jan2023, Vol. 12 Issue 2, p480, 12p

مصطلحات موضوعية: ENZYME replacement therapy, ADENOID cystic carcinoma, AIRWAY (Anatomy), DISEASE progression, LYSOSOMAL storage diseases

المؤلفون: Linari, Silvia, Castaman, Giancarlo

المصدر: Journal of Clinical Medicine; Dec2022, Vol. 11 Issue 23, p6920, 16p

مصطلحات موضوعية: GAUCHER'S disease, PLATELET function tests, ENZYME replacement therapy, POSTPARTUM hemorrhage, LYSOSOMAL storage diseases, METABOLIC disorders, GLYCOGEN storage disease type II, BLOOD platelet disorders

المؤلفون: Cybulla, Markus, Nicholls, Kathleen, Feriozzi, Sandro, Linhart, Aleš, Torras, Joan, Vujkovac, Bojan, Botha, Jaco, Anagnostopoulou, Christina, West, Michael L.

المصدر: Journal of Clinical Medicine; Aug2022, Vol. 11 Issue 16, p4810-N.PAG, 15p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, GLYCOGEN storage disease type II, ENZYME replacement therapy, LYSOSOMAL storage diseases, KIDNEY diseases

المؤلفون: Ammer, Luise Sophie, Muschol, Nicole Maria, Santer, René, Lang, Annika, Breyer, Sandra Rafaela, Sasu, Phillip Brenya, Petzoldt, Martin, Dohrmann, Thorsten

المصدر: Journal of Clinical Medicine; Jul2022, Vol. 11 Issue 13, p3650-N.PAG, 15p

مصطلحات موضوعية: GLYCOGEN storage disease type II, ANESTHETICS, RETROSPECTIVE studies, LYSOSOMAL storage diseases, RISK assessment, INTERDISCIPLINARY research