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: 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: Pierzynowska, Karolina¹ (AUTHOR), Deresz, Patrycja¹ (AUTHOR), Węgrzyn, Grzegorz¹ (AUTHOR), Gaffke, Lidia¹ (AUTHOR) lidia.gaffke@ug.edu.pl

المصدر: Metabolic Brain Disease. Aug2023, Vol. 38 Issue 6, p2133-2144. 12p.

مصطلحات موضوعية: *GENETIC code, *LYSOSOMAL storage diseases, *TRANSCRIPTOMES, *PROTEINS, *METABOLIC disorders

المؤلفون: Mitala, Yekosani, Birungi, Abraham, Mushabe, Branchard, Manzi, John, Ssenkumba, Brian, Atwine, Raymond, Ankunda, Siyadora

المصدر: Journal of Blood Medicine; Jan2024, Vol. 15, p1-7, 7p

مصطلحات موضوعية: GAUCHER'S disease, METABOLIC disorders, LYSOSOMAL storage diseases, DIAGNOSIS, BONE marrow examination, GLYCOGEN storage disease type II

مصطلحات جغرافية: UGANDA

المؤلفون: Fonseca, Tiago, Macedo, M. Fátima

المصدر: Biomedicines; Jan2024, Vol. 12 Issue 1, p174, 4p

مصطلحات موضوعية: GLYCOGEN storage disease type II, LYSOSOMAL storage diseases, INBORN errors of metabolism, CYTOTOXIC T cells, METABOLIC disorders, GLYCOGEN storage disease, ANGIOKERATOMA corporis diffusum

المؤلفون: Nasir, Sharmeen, Mehnaz, Aisha, Jamal, Ammarah, Rafique, Muhammad, Yahya, Yousuf, Kamran, Amber

المصدر: Journal of Liaquat University of Medical & Health Sciences; Oct-Dec2023, Vol. 22 Issue 4, p277-281, 5p

مصطلحات موضوعية: GLYCOGEN storage disease type II, METABOLIC disorders, TERTIARY care, TYPHOID fever, INBORN errors of metabolism, LYSOSOMAL storage diseases

مصطلحات جغرافية: KARACHI (Pakistan), PAKISTAN

المؤلفون: Gómez-Cebrián, Nuria, Gras-Colomer, Elena, Poveda Andrés, José Luis, Pineda-Lucena, Antonio, Puchades-Carrasco, Leonor

المصدر: Biology (2079-7737); Sep2023, Vol. 12 Issue 9, p1159, 18p

مصطلحات موضوعية: GLYCOGEN storage disease type II, METABOLIC disorders, LYSOSOMAL storage diseases, GLYCOGEN storage disease, LYSOSOMES, GENETIC disorders, AUDIOMETRY

المؤلفون: Xiaojing Song¹, Jian Li², Miao Tian³, Huaiyi Zhu⁴, Xiaohui Hu¹, Yuting Zhang¹, Yanru Cao³, Heyang Ye², McCormick, Peter J.⁵, Bo Zeng⁶, Yang Fu³ fuy@sustech.edu.cn, Jingjing Duan⁴ duan.jingjing@ncu.edu.cn, Jin Zhang¹ zhangxiaokong@hotmail.com

المصدر: Journal of Biological Chemistry. Feb2022, Vol. 298 Issue 2, p1-11. 11p.

مصطلحات موضوعية: *ION channels, *LYSOSOMAL storage diseases, *LIPIDS, *MICE, *METABOLIC disorders, *MAMMALS

المؤلفون: Sitarska, Dominika¹ (AUTHOR) dominika.sitarska@gmail.com, Tylki-Szymańska, Anna² (AUTHOR), Ługowska, Agnieszka¹ (AUTHOR) alugipin@yahoo.com

المصدر: Metabolic Brain Disease. Dec2021, Vol. 36 Issue 8, p2215-2221. 7p.

مصطلحات موضوعية: *LYSOSOMES, *LYSOSOMAL storage diseases, *GENETIC disorders, *NERVOUS system, *NEURODEGENERATION, *METABOLIC disorders, *BLOOD-brain barrier

المؤلفون: Gündüz, Mehmet, Yüksel Güdek, Yasemin, Kasapkara, Çiğdem Seher

المصدر: Orphanet Journal of Rare Diseases; 7/6/2023, Vol. 18 Issue 1, p1-6, 6p

مصطلحات موضوعية: INBORN errors of metabolism, AMINO acid metabolism disorders, LYSOSOMAL storage diseases, CALORIC expenditure, AUDIOMETRY, METABOLIC disorders, INCOME

مصطلحات جغرافية: ANKARA (Turkey)