نتائج البحث - "A Adamowicz-Salach"

1

دورية أكاديمية

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants

المؤلفون: Maciak, Karolina, Jurkiewicz, Aneta, Strojny, Wojciech, Adamowicz-Salach, Anna, Romiszewska, Magdalena, Jackowska, Teresa, Kwiecinska, Kinga, Poznanski, Jaroslaw, Gora, Monika, Burzynska, Beata

المصدر: In Blood Cells, Molecules and Diseases July 2024 107

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2

دورية أكاديمية

Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation

المؤلفون: Maciak, Karolina, Adamowicz-Salach, Anna, Siwicka, Alicja, Poznanski, Jaroslaw, Urasinski, Tomasz, Plochocka, Danuta, Gora, Monika, Burzynska, Beata

المصدر: In Blood Cells, Molecules and Diseases February 2020 80

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3

دورية أكاديمية

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report

المؤلفون: Karolina Maciak, Anna Adamowicz-Salach, Jaroslaw Poznanski, Monika Gora, Jan Fronk, Beata Burzynska

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: congenital non-spherocytic hemolytic anemia, pyruvate kinase deficiency, iron metabolism, hepcidin, TMPRSS6 (matriptase-2), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.560248/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/95fc731f9f88471d858bbb6ecfb86135

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4

دورية أكاديمية

Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

المؤلفون: Katarzyna Rawa, Roman J. Szczesny, Ewelina P. Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski, Beata Burzynska

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)

مصطلحات موضوعية: β- thalassemia, Frameshift mutations, Gene expression, mRNA degradation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0428-1; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/fc2fa0a2aaf14b5aa45fdaf66d2a68f1

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5

دورية أكاديمية

Autoimmune hemolytic anemia in children during 2004–2014 in the Department of Pediatrics, Hematology and Oncology, Warsaw Medical University

المؤلفون: Wołowiec, Magdalena, Adamowicz-Salach, Anna, Gołębiowska-Staroszczyk, Sydonia, Demkow, Urszula, Skrzypczak-Pamięta, Małgorzata, Michalewska, Bogumiła, Matysiak, Michał

المصدر: In Polish Annals of Medicine September 2015 22(2):119-123

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6

دورية أكاديمية

Usefulness of Reticulocyte Parameters for Diagnosis of Hereditary Spherocytosis in Children

المؤلفون: Ciepiela, Olga, Adamowicz-Salach, Anna, Radgowska, Andżelika, Żbikowska, Katarzyna, Kotuła, Iwona

المصدر: Indian Journal of Hematology and Blood Transfusion. June 2017 33(2):239-247

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7

دورية أكاديمية

Mean corpuscular volume of control red blood cells determines the interpretation of eosin-5′-maleimide (EMA) test result in infants aged less than 6 months

المؤلفون: Ciepiela, Olga, Adamowicz-Salach, Anna, Bystrzycka, Weronika, Łukasik, Jan, Kotuła, Iwona

المصدر: Annals of Hematology. August 2015 94(8):1277-1283

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8

Growth hormone deficiency as a complication of haemophilia – a case report and literature data

المؤلفون: Paweł Łaguna, Anna Adamowicz-Salach, Anna Kucharska, Ewelina Witkowska-Sędek, Anna Klukowska

المصدر: Pediatric Endocrinology Diabetes and Metabolism. 26:150-154

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9fb192fe092292b5b8c7d67a344e195
https://doi.org/10.5114/pedm.2020.95619

9

دورية أكاديمية

Napadowa zimna hemoglobinuria – niedoceniana przyczyna niedokrwistości hemolitycznej u dzieci

Alternate Title: Paroxysmal cold hemoglobinuria as underestimated cause of autoimmune hemolytic anemia in children (English)

المؤلفون: Sobocińska-Mirska, Agata, Adamowicz-Salach, Anna, Michalewska, Bogumiła, Matysiak, Michał, Gołębiowska-Staroszczyk, Sydonia, Albrecht-Stanisławska, Katarzyna, Niewiadomska, Edyta, Pelc-Kłopotowska, M., Bednarz, J.

المصدر: In Pediatria Polska 2009 84(1):46-52

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دورية أكاديمية

Ocena wpływu długości okresu przechowywania próbki krwi na wynik testu EMA. Doniesienie wstępne

Alternate Title: Evaluation of long-term blood sample storage and its influence on result of ema binding test analysis. Initial report (English)

المؤلفون: Szmydki-Baran, Anna, Adamowicz-Salach, Anna, Gołębiowska-Staroszczyk, Sydonia, Stelmaszczyk-Emmel, Anna, Górska, Elżbieta, Potapińska, Olga

المصدر: In Pediatria Polska 2009 84(5):423-425

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