Showing 1 - 11 results of 11 for search 'Patryk Lipiński', query time: 0.07s Refine Results
  1. 1
    Congenital Disorders of Glycosylation: What Clinicians Need to Know?

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

    Published 2021
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  2. 2
    Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature

    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
    Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

    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
    Anthropometric Phenotype of Patients with PMM2-CDG

    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
    Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

    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
    Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods

    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
    Pediatric Liver Disease Patients and Secondary Glycosylation Abnormalities

    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
    Congenital disorders of glycosylation in children - Histopathological and ultrastructural changes in the liver

    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
    Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights

    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
    The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant

    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
    Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

    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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