Bibliografia UJ CM

1/2
Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzyściak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Renee M. McGovern, Joel M. Reid, David Cassiman, Karthik Muthusamy, Christin Johnsen, Saadet Mercimek-Andrews, Austin Larson, Christina Lam, Andrew C. Edmondson, Bart Ghesquiere, Peter Witters, Kimiyo Raymond, Devin Oglesbee, Akhilesh Pandey, Ethan O. Perlstein, Tamas Kozicz, Eva Morava.
Sorbitol is a severity biomarker for PMM2-CDG with therapeutic implications.
Annals of Neurology
2021 : Vol. 90, nr 6, s. 887-900, bibliogr., asbtr.
Autor korespondencyjny: Eva Morava.
p-ISSN: 0364-5134
e-ISSN: 1531-8249
AZ
ORG
AIF
IF: 11.274
Adres url:
2/2
Anna Cechova, Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia, Muriel Girard, Annie Harroche, Beata Kiec-Wilk, Klaus Mohnike, Tiffany Pascreau, Łukasz Pawliński, Silvia Radenkovic, Sandrine Vuillaumier-Barrot, Luis Aldamiz-Echevarria, Maria Luz Couce, Esmeralda G. Martin, Dulce Quelhas, Eva Morava, Pascale de Lonlay, Peter Witters, Tomas Honzik.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Journal of Inherited Metabolic Disease
2020 : Vol. 43, nr 4, s. 671-693, il., bibliogr. 98 poz., abstr.
Autor korespondencyjny: Pascale de Lonlay.
p-ISSN: 0141-8955
AZ
POG
AIF
IF: 4.982
Adres url:
Streszczenie w PubMed:
Wyświetl ponownie stosując format: