Search Results - Patryk Lipiński

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  1. 1
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    Congenital Disorders of Glycosylation: What Clinicians Need to Know? by Patryk Lipiński, Anna Tylki-Szymańska

    Published 2021
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  2. 2
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    Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature by Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska

    Published 2021
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  3. 3
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    Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation by Patryk Lipiński, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska

    Published 2021
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  4. 4
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    Anthropometric Phenotype of Patients with PMM2-CDG by Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Anna Bogdańska, Anna Tylki-Szymańska

    Published 2021
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  5. 5
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    Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience by Patryk Lipiński, Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Agnieszka Pollak, Maria Wypchło, Maria Wypchło, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Joanna Pawłowska, Irena Jankowska

    Published 2020
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  6. 6
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    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 2018
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  7. 7
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    Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities by Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Irena Jankowska, Piotr Socha, Anna Tylki-Szymańska

    Published 2021
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  8. 8
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    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

    Published 2021
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  9. 9
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    Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights by Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Maciej Pronicki, Elżbieta Jurkiewicz, Anna Bogdańska, Rafał Płoski, Irena Jankowska

    Published 2022
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  10. 10
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    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

    Published 2021
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  11. 11
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    Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease by Dorota Wicher, Irena Jankowska, Patryk Lipiński, Paulina Szymańska-Rożek, Jakub Kmiotek, Wojciech Jańczyk, Jacek Rubik, Krystyna Chrzanowska, Piotr Socha

    Published 2019
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