Search Results - Anna Tylki-Szymańska
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1
Congenital Disorders of Glycosylation: What Clinicians Need to Know? by Patryk Lipiński, Anna Tylki-Szymańska
Published 2021Call Number: Loading…Connect to this object online.
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2
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation by Patryk Lipiński, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska
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3
Editorial: Prevention, diagnosis and treatment of rare disorders by Timothy M. Cox, Anna Tylki-Szymańska, Ségolène Aymé, Marc Dooms
Published 2022Call Number: Loading…Connect to this object online.
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4
Anthropometric Phenotype of Patients with PMM2-CDG by Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Anna Bogdańska, Anna Tylki-Szymańska
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5
Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI? by Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Zbigniew Żuber, Anna Tylki-Szymańska
Published 2016Call Number: Loading…Connect to this object online.
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6
Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods by Patryk Lipiński, Irena Jankowska, Agnieszka Ługowska, Małgorzata Musielak, Maciej Pronicki, Anna Tylki-Szymańska
Published 2018Call Number: Loading…Connect to this object online.
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7
Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities by Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Irena Jankowska, Piotr Socha, Anna Tylki-Szymańska
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8
Congenital disorders of glycosylation in children - Histopathological and ultrastructural changes in the liver by Patryk Lipiński, Joanna Cielecka-Kuszyk, Elżbieta Czarnowska, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska
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9
Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency by Marek Stefanowicz, Maria Janowska, Joanna Pawłowska, Anna Tylki-Szymańska, Adam Kowalski, Marek Szymczak, Piotr Kaliciński, Irena Jankowska
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10
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant by Justyna Paprocka, Aleksandra Jezela-Stanek, Łukasz Boguszewicz, Maria Sokół, Patryk Lipiński, Ewa Jamroz, Ewa Emich-Widera, Anna Tylki-Szymańska
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