Dear Readers and Authors

por Jezela-Stanek, Aleksandra
Publicado 2021

Interstitial Lung Disease in Rare Congenital Syndromes

por Jezela-Stanek, Aleksandra
Publicado 2020

Editorial

por Jezela-Stanek, Aleksandra
Publicado 2021

Editorial

por Jezela-Stanek, Aleksandra
Publicado 2022

SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency

por Jezela-Stanek, Aleksandra, Chorostowska-Wynimko, Joanna
Publicado 2023

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

por Hutny, Michal, Lipinski, Patryk, Jezela-Stanek, Aleksandra
Publicado 2023

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome – Literature Review

por Kosinski, Przemyslaw, Greczan, Milena, Jezela-Stanek, Aleksandra
Publicado 2021

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

por Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Stepien, Karolina M.
Publicado 2020

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

por Stepien, Karolina M., Ciara, Elżbieta, Jezela-Stanek, Aleksandra
Publicado 2020

Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

por Wesół-Kucharska, Dorota, Rokicki, Dariusz, Jezela-Stanek, Aleksandra
Publicado 2021

Nonimmune Hydrops Fetalis—Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review

por Kosinski, Przemyslaw, Krajewski, Pawel, Wielgos, Miroslaw, Jezela-Stanek, Aleksandra
Publicado 2020

Editorial: Inherited Protein Glycosylation Defects in Humans

por Jezela-Stanek, Aleksandra, Stepien, Karolina M., Tylki-Szymanska, Anna
Publicado 2022

Congenital Disorders of Glycosylation from a Neurological Perspective

por Paprocka, Justyna, Jezela-Stanek, Aleksandra, Tylki-Szymańska, Anna, Grunewald, Stephanie
Publicado 2021

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases

por Jezela-Stanek, Aleksandra, Kleinotiene, Grazina, Chwialkowska, Karolina, Tylki-Szymańska, Anna
Publicado 2021

Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein

por Lechowicz, Urszula, Rudzinski, Stefan, Jezela-Stanek, Aleksandra, Janciauskiene, Sabina, Chorostowska-Wynimko, Joanna
Publicado 2020

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

por Lipiński, Patryk, Stępień, Karolina M., Ciara, Elżbieta, Tylki-Szymańska, Anna, Jezela-Stanek, Aleksandra
Publicado 2021

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

por Jezela-Stanek, Aleksandra, Blaz, Witold, Gora, Artur, Bochenska, Malgorzata, Kusmierska, Katarzyna, Sykut-Cegielska, Jolanta
Publicado 2020

Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis

por Greczan, Milena, Rokicki, Dariusz, Wesół-Kucharska, Dorota, Kaczor, Magdalena, Rawiak, Agata, Jezela-Stanek, Aleksandra
Publicado 2022

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

por Jezela-Stanek, Aleksandra, Różdżyńska-Świątkowska, Agnieszka, Kulpanovich, Anna, Ciara, Elżbieta, Marucha, Jolanta, Tylki-Szymańska, Anna
Publicado 2019

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

por Mitusińska, Karolina, Góra, Artur, Bogdańska, Anna, Rożdżyńska-Świątkowska, Agnieszka, Tylki-Szymańska, Anna, Jezela-Stanek, Aleksandra
Publicado 2022