Zobrazeno 1 - 10
of 106 790
pro vyhledávání: '"A, Gaucher"'
Autor:
Méndez-Cobián, Daniela Anahí1,2 (AUTHOR) daniela_anahi17@outlook.com, Guzmán-Silahua, Sandra1,3 (AUTHOR) guzmansilahuasandra@gmail.com, García-Hernández, Diana1,4 (AUTHOR) diana_salmaq@hotmail.com, Conde-Sánchez, Julian1,5 (AUTHOR) julian.conde7874@alumnos.udg.mx, Castañeda-Borrayo, Yaocihuatl1,6 (AUTHOR) dra_yao@hotmail.com, Duey, Kylee Louise3 (AUTHOR), Zavala-Cerna, Maria G.4 (AUTHOR), Rubio-Jurado, Benjamín1,7 (AUTHOR) rubiojuradob@gmail.com, Nava-Zavala, Arnulfo Hernán1,3,8 (AUTHOR) rubiojuradob@gmail.com
Publikováno v:
Diagnostics (2075-4418). Dec2024, Vol. 14 Issue 24, p2840. 13p.
Autor:
Szymańska-Rożek, Paulina1 (AUTHOR) p.szymanska@gmail.com, Lipiński, Patryk2 (AUTHOR) patryk.lipinski.92@gmail.com, Kleinotiene, Grazina3 (AUTHOR) grazina.kleinotiene@santa.lt, Dubiela, Paweł4 (AUTHOR) paweldubiela89@gmail.com, Tylki-Szymańska, Anna5 (AUTHOR) patryk.lipinski.92@gmail.com
Publikováno v:
International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12021. 9p.
Autor:
Golubović, Ivana1,2 drivanagolubovic@gmail.com, Vučić, Miodrag2,3, Marjanović, Goran2,3, Ćojbašić, Irena2,3, Nikolić, Vesna2, Krstić, Miljan3,4, Lazarević, Milan3,5, Bojanović, Aleksandar1,6, Stamenković, Bojana3,7, Mladenović, Andrijana1,2, Bjelaković, Milica1,8, Janković, Miloš9
Publikováno v:
Acta Medica Medianae. Jun2024, Vol. 63 Issue 2, p87-95. 9p.
Autor:
Héron, Bénédicte1 (AUTHOR) benedicte.heron@aphp.fr, Batzios, Spyros2 (AUTHOR), Mengel, Eugen3 (AUTHOR), Giugliani, Roberto4 (AUTHOR), Patterson, Marc5 (AUTHOR), Gautschi, Matthias6 (AUTHOR), Cornelisse, Peter7 (AUTHOR), Trokan, Luba7 (AUTHOR), Schwierin, Barbara7 (AUTHOR), Rohrbach, Marianne8 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 12/5/2024, Vol. 19 Issue 1, p1-11. 11p.
Autor:
Zhao, Tengfei1,2,3 (AUTHOR) zhaotengfei@zju.edu.cn, Zhang, Ning1,2,3 (AUTHOR) zhangning@zju.edu.cn, Chen, Linwei1,2,3 (AUTHOR) surgeonlinwei@zju.edu.cn, Li, Jun1,2,3 (AUTHOR) lijun24@zju.edu.cn, Chen, Qixin1,2,3 (AUTHOR) zrcqx@zju.edu.cn, Li, Fangcai1,2,3 (AUTHOR) 2505004@zju.edu.cn
Publikováno v:
Surgeries (2673-4095). Sep2024, Vol. 5 Issue 3, p619-626. 8p.
Autor:
Kałużna, Małgorzata1,2 (AUTHOR) ewelinaparulska@gmail.com, Szczepanek-Parulska, Ewelina1,2 (AUTHOR) kaziem@ump.edu.pl, Moczko, Jerzy3 (AUTHOR) jmoczko@ump.edu.pl, Czlapka-Matyasik, Magdalena4 (AUTHOR) magdalena.matyasik@up.poznan.pl, Katulska, Katarzyna5 (AUTHOR) kkatulska@ump.edu.pl, Ziemnicka, Katarzyna1,2 (AUTHOR) mruchala@ump.edu.pl, Kieć-Wilk, Beata6 (AUTHOR) mbkiec@gmail.com, Ruchała, Marek1,2 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 24, p13636. 13p.
Autor:
Janpipatkul, Keatdamrong1 (AUTHOR), Sutjarit, Nareerat2 (AUTHOR), Tangprasittipap, Amornrat3 (AUTHOR), Chaiamarit, Tai4 (AUTHOR), Innachai, Pawarit3 (AUTHOR), Suksen, Kanoknetr4 (AUTHOR), Chokpanuwat, Tanida4 (AUTHOR), Tim-Aroon, Thipwimol5 (AUTHOR), Anurathapan, Usanarat5 (AUTHOR), Jearawiriyapaisarn, Natee6 (AUTHOR), Tubsuwan, Alisa6 (AUTHOR), Bowornpinyo, Supareak7,8 (AUTHOR), Asavapanumas, Nithi9 (AUTHOR), Chairoungdua, Arthit4,8 (AUTHOR), Bhukhai, Kanit4 (AUTHOR) kanit.bhu@mahidol.ac.th, Hongeng, Suradej5,8 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 10/2/2024, Vol. 19 Issue 1, p1-14. 14p.
Autor:
El-Beshlawy, Amal1 (AUTHOR), Tantawy, Azza A. G.2 (AUTHOR) azatantawy@hotmail.com, Shawky, Rabah M.2 (AUTHOR), Elsayed, Solaf M.3 (AUTHOR), Marzouk, Iman M.4 (AUTHOR), Elgawhary, S.5 (AUTHOR), Abdelghaffar, Hadeer6 (AUTHOR), Safy, Usama El7 (AUTHOR), Eid, Khaled1 (AUTHOR), EISayh, Khalid I.8 (AUTHOR), Megahed, Ahmed9 (AUTHOR), Adly, Amira2 (AUTHOR), Sherif, Eman M.2 (AUTHOR), Youssef, Mervat A. M.8 (AUTHOR), Fathy, Manar Mohamed7 (AUTHOR), Salah, Nouran Yousef2 (AUTHOR), Elzeiny, Sherine M.9 (AUTHOR), EI Bakky, Eslam Rabie Abdel Aziz6 (AUTHOR), Fateen, Ekram10 (AUTHOR)
Publikováno v:
Egyptian Journal of Medical Human Genetics. 7/31/2024, Vol. 25 Issue 1, p1-16. 16p.
Autor:
Cebolla, Jorge J.1 (AUTHOR) carmen.montoto@takeda.com, Giraldo, Pilar2,3 (AUTHOR) giraldocastellano@gmail.com, Gómez, Jessica4 (AUTHOR) jessica.gomez@anaxomics.com, Montoto, Carmen1 (AUTHOR), Gervas-Arruga, Javier5 (AUTHOR) javier.gervas@takeda.com
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 16, p8586. 18p.
Autor:
Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy. The conditions are rare, and there is therefore
Externí odkaz:
https://doaj.org/article/395c54a9c19542dcae550c53af3693de