Bibliografia UJ CM

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Diederik de Graef, Anna N. Ligezka, Joseph Rezents, Gina L. Mazza, Graeme Preston, Kaitlin Schwartz, Wirginia Krzysciak, Christina Lam, Andrew C. Edmondson, Christin Johnsen, Tamas Kozicz, Eva Morava.
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation
Molecular Genetics and Metabolism
2023 : Vol. 139, nr 2, bibliogr. 31 poz., abstr.
Autor korespondencyjny: Eva Morava.
Online First 2023-05-09
p-ISSN: 1096-7192
e-ISSN: 1096-7206
AZ
ORG
AIF
IF: 3.800
Adres url:
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Anna Ligezka, Diederik de Graef, Jozeph Resents, Wirginia Krzysciak, Christina Lam, Andrew Edmondson, Eva Morava.
Coagulation abnormalities in PMM2-CDG : natural history studies in 50 cases
Molecular Genetics and Metabolism
2023 : Vol. 138, nr 3, Poster 071
Program and Abstracts for the Annual Meeting of the Society for Inherited Metabolic Disorders (SIMD) Annual Meeting 2023, Salt Lake City
p-ISSN: 1096-7192
e-ISSN: 1096-7206
SZZ
SIF
Adres url:
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Anna N. Ligezka, Anab Mohamed, Carlota Pascoal, Vanessa Dos Reis Ferreira, Suzanne Boyer, Andrew Edmondson, Wirginia Krzysciak, Raphael Golebiowski, Judit Perez-Ortiz, Eva Morava.
Patient-reported outcomes and quality of life in PMM2-CDG
Molecular Genetics and Metabolism
2022 : Vol. 136, nr 2, s. 145-151, bibliogr.
Autor korespondencyjny: Eva Morava.
p-ISSN: 1096-7192
e-ISSN: 1096-7206
AZ
ORG
AIF
IF: 3.800
Adres url:
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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:
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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:
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Wirginia Krzyściak, Monika Papież, Ewelina Bąk, Eva Morava, Paweł Krzyściak, Anna Ligęzka, Agnieszka Gniadek, Palina Vyhouskaya, Jarosław Janeczko.
Sperm Antioxidant Biomarkers and Their Correlation with Clinical Condition and Lifestyle with Regard to Male Reproductive Potential.
Journal of Clinical Medicine
2020 : Vol. 9, nr 6, il., bibliogr. 99 poz., abstr.
Autor korespondencyjny: Wirginia Krzyściak.
Open Access Creative Commons Attribution License CC-BY 4.0.
p-ISSN: 2077-0383
AZ
ORG
AIF
IF: 4.242
Adres url:
Streszczenie w PubMed:
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