المؤلفون: Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101052- (2024)

مصطلحات موضوعية: Acid sphingomyelinase deficiency, ASMD, Niemann–Pick, Diagnosis, Clinical presentation, Diagnostic delay, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000053Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/3e62dc89d32a45dba8197f4efb22976eTest

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

المساهمون: 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

مصطلحات موضوعية: Gaucher disease, acid sphingomyelinase deficiency, ASMD, glucocerebrosidase, acid sphingomyelinase, differential diagnosis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38592326; info:eu-repo/semantics/altIdentifier/wos/WOS:001182802500001; volume:13; issue:5; numberofpages:13; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11584/395646Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187457926; https://www.mdpi.com/2077-0383/13/5/1487Test

الإتاحة: https://doi.org/10.3390/jcm13051487Test
https://hdl.handle.net/11584/395646Test
https://www.mdpi.com/2077-0383/13/5/1487Test

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

المصدر: Journal of Clinical Medicine, Vol 13, Iss 5, p 1487 (2024)

مصطلحات موضوعية: Gaucher disease, acid sphingomyelinase deficiency, ASMD, glucocerebrosidase, acid sphingomyelinase, differential diagnosis, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/13/5/1487Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/c59be1fbbdad4426af32d7d87099fe72Test

المؤلفون: Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-28 (2023)

مصطلحات موضوعية: Acid sphingomyelinase deficiency, ASMD, Niemann–Pick disease, Niemann–Pick disease-a,b,a/b, Guidelines, Diagnosis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/3b60746a318b45afbe6b8545bdc098d5Test

المؤلفون: Maria Judit Molnar, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: ASMD, acid sphingomyelinase deficiency type A/B, intermediate-type acid sphingomyelinase deficiency, Niemann-Pick disease type A/B, SMPD1, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1158108/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/4e5af7abff8345f7874df2075855a40bTest

المؤلفون: Yu-Wen Pan, Meng-Che Tsai, Chiao-Yu Yang, Wen-Hao Yu, Bow Wang, Yao-Jong Yang, Yen-Yin Chou

المصدر: Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100957- (2023)

مصطلحات موضوعية: ASMD, Niemann-Pick disease, Enzyme replacement therapy, Liver stiffness, Olipudase alfa, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000034Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/3ab0384f96bd414dac3de964f9cf94aaTest

المؤلفون: Gema Gomez-Mariano, Sara Perez-Luz, Sheila Ramos-Del Saz, Nerea Matamala, Esther Hernandez-SanMiguel, Marta Fernandez-Prieto, Sara Gil-Martin, Iago Justo, Alberto Marcacuzco, Beatriz Martinez-Delgado

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 16, p 12645 (2023)

مصطلحات موضوعية: acid sphignoimylinase deficiency (ASMD), Niemann–Pick type B, organoids, liver, lipids, lysosome, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/16/12645Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/337f60eb278245dfb560633c8282eedaTest

المؤلفون: Geberhiwot, Tarekegn, Giugliani, Roberto, Schuchman, Edward

مصطلحات موضوعية: ASMD, Acid sphingomyelinase deficiency, Diagnosis, Guidelines, Management, Niemann–Pick disease, Niemann–Pick disease-a,b,a/b, Mutação, Doença de Niemann-Pick tipo A, Doenças de Niemann-Pick, Esfingomielina fosfodiesterase

وصف الملف: application/pdf

العلاقة: Orphanet journal of rare diseases. [London]. Vol. 18 (Oct. 2023), 85, 28 p.; http://hdl.handle.net/10183/273751Test; 001198459

الإتاحة: http://hdl.handle.net/10183/273751Test

المؤلفون: Pérez Luz, Sara, Gómez Mariano, Gema, Ramos del Saz, Sheila, Matamala, Nerea, Hernández Sanmiguel, Esther, Fernández Prieto, Marta, Gil Martín, Sara, Justo, Iago, Marcacuzco, Alberto, Martínez Delgado, Beatriz

مصطلحات موضوعية: 572.1/.4, acid sphignoimylinase deficiency (ASMD), Niemann–Pick type B, organoids, liver, lipids, lysosome, SMPD1 gene, Biología, 2410.07 Genética Humana

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/20.500.14352/102012Test

الإتاحة: https://doi.org/20.500.14352/102012Test
https://hdl.handle.net/20.500.14352/102012Test

المؤلفون: Instituto de Salud Carlos III

مصطلحات موضوعية: Organoides, Hígado, Enfermedades raras, Deficiencia de la enzima esfingomielinasa ácida (ASMD), Enfermedad de Niemann-Pick tipo B, Lípidos, Lisosoma, Déficit de Alfa-1 Antitripsina, DAAT

العلاقة: Noticia publicada en la web del ISCIII, el 20/09/2023.; http://hdl.handle.net/20.500.12105/16479Test

الإتاحة: https://doi.org/20.500.12105/16479Test
https://hdl.handle.net/20.500.12105/16479Test