Cross-border healthcare? The Polish experience

por Sykut-Cegielska, Jolanta
Publicado 2010

From the Editor-in-Chief

por Sykut-Cegielska, Jolanta
Publicado 2020

Difficulties in The Dietary Management of a Girl with Two Diseases Requiring a Special Diet

por Kowalik, Agnieszka, Gajewska, Danuta, Sykut-Cegielska, Jolanta
Publicado 2018

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

por Kowalik, Agnieszka, MacDonald, Anita, Sykut-Cegielska, Jolanta
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

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

por Bekiesinska-Figatowska, Monika, Duczkowski, Marek, Duczkowska, Agnieszka, Taybert, Joanna, Krzywdzinska, Amanda, Sykut-Cegielska, Jolanta
Publicado 2021

The genetic basis of classical galactosaemia in Polish patients

por Jezela-Stanek, Aleksandra, Bauer, Anna, Wertheim-Tysarowska, Katarzyna, Bal, Jerzy, Rygiel, Agnieszka Magdalena, Sykut-Cegielska, Jolanta
Publicado 2021

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

por Bik-Multanowski, Miroslaw, Jamroz, Ewa, Kaluzny, Lukasz, Pronicka, Ewa, Rokicki, Dariusz, Starostecka, Ewa, Sykut-Cegielska, Jolanta, Walczak, Mieczyslaw
Publicado 2015

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

por Tumienė, Birutė, del Toro Riera, Mireia, Grikiniene, Jurgita, Samaitiene-Aleknienė, Rūta, Praninskienė, Rūta, Monavari, Ahmad Ardeshir, Sykut-Cegielska, Jolanta
Publicado 2022

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme

por Jezela-Stanek, Aleksandra, Suchoń, Lidia, Sobczyńska-Tomaszewska, Agnieszka, Czerska, Kamila, Kuśmierska, Katarzyna, Taybert, Joanna, Ołtarzewski, Mariusz, Sykut-Cegielska, Jolanta
Publicado 2022

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG ge...

por Pronicka, Ewa, Węglewska-Jurkiewicz, Anna, Pronicki, Maciej, Sykut-Cegielska, Jolanta, Kowalski, Paweł, Pajdowska, Magdalena, Jankowska, Irena, Kotulska, Katarzyna, Kaliciński, Piotr, Jakóbkiewicz-Banecka, Joanna, Węgrzyn, Grzegorz
Publicado 2011

COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers

por Tobór-Świętek, Ewa, Sykut-Cegielska, Jolanta, Bik-Multanowski, Mirosław, Walczak, Mieczysław, Rokicki, Dariusz, Kałużny, Łukasz, Wierzba, Joanna, Pac, Małgorzata, Jahnz-Różyk, Karina, Więsik-Szewczyk, Ewa, Kieć-Wilk, Beata
Publicado 2021

A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries

por Czech, Marcin, Baran-Kooiker, Aleksandra, Atikeler, Kagan, Demirtshyan, Maria, Gaitova, Kamilla, Holownia-Voloskova, Malwina, Turcu-Stiolica, Adina, Kooiker, Coen, Piniazhko, Oresta, Konstandyan, Natella, Zalis'ka, Olha, Sykut-Cegielska, Jolanta
Publicado 2020

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

por Witters, Peter, Tahata, Shawn, Barone, Rita, Õunap, Katrin, Salvarinova, Ramona, Grønborg, Sabine, Hoganson, George, Scaglia, Fernando, Lewis, Andrea Margaret, Mori, Mari, Sykut-Cegielska, Jolanta, Edmondson, Andrew, He, Miao, Morava, Eva
Publicado 2020

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progres...

por Pronicka, Ewa, Węglewska-Jurkiewicz, Anna, Taybert, Joanna, Pronicki, Maciej, Szymańska-Dębińska, Tamara, Karkucińska-Więckowska, Agnieszka, Jakóbkiewicz-Banecka, Joanna, Kowalski, Paweł, Piekutowska-Abramczuk, Dorota, Pajdowska, Magdalena, Socha, Piotr, Sykut-Cegielska, Jolanta, Węgrzyn, Grzegorz
Publicado 2010

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

por Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita
Publicado 2022

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome

por Karkucinska-Wieckowska, Agnieszka, Trubicka, Joanna, Werner, Bozena, Kokoszynska, Katarzyna, Pajdowska, Magdalena, Pronicki, Maciej, Czarnowska, Elzbieta, Lebiedzinska, Magdalena, Sykut-Cegielska, Jolanta, Ziolkowska, Lidia, Jaron, Weronika, Dobrzanska, Anna, Ciara, Elzbieta, Wieckowski, Mariusz R., Pronicka, Ewa
Publicado 2013

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

por Pearson, Toni S., Gilbert, Laura, Opladen, Thomas, Garcia‐Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K. H., Sykut‐Cegielska, Jolanta, Pons, Roser, Mercimek‐Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A., Steel, Dora, Manti, Filippo, Meeks, Kathleen D., Jeltsch, Kathrin, Flint, Lisa
Publicado 2020

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

por Achouitar, Samira, Mohamed, Miski, Gardeitchik, Thatjana, Wortmann, Saskia B., Sykut-Cegielska, Jolanta, Ensenauer, Regina, de Baulny, Hélène Ogier, Õunap, Katrin, Martinelli, Diego, de Vries, Maaike, McFarland, Robert, Kouwenberg, Dorus, Theodore, Miranda, Wijburg, Frits, Grünewald, Stephanie, Jaeken, Jaak, Wevers, Ron A., Nijtmans, Leo, Elson, Joanna, Morava, Eva
Publicado 2011

Clinical Features of Lysosomal Acid Lipase Deficiency

por Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut-Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Publicado 2015