Experiences with galactosemia in Croatia

Experiences with galactosemia in Croatia

The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1-phosphate uridyl transferase (GALT), and galactose-...

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Bibliographic Details
Main Authors: Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka†, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić
Format: Article
Language:English
Published: Hrvatski liječnički zbor 2023-03-01
Series:Liječnički vjesnik
Subjects:
galactosemias – complications
diagnosis
genetics; galactose – blood; utp-hexose-1-phosphate uridylyltransferase – deficiency
genetics; udp glucose 4-epimerase – deficiency
genetics; galactokinase – deficiency
Online Access:https://lijecnicki-vjesnik.hlz.hr/pdf/1-2-2023/01_smaguc.pdf

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https://lijecnicki-vjesnik.hlz.hr/pdf/1-2-2023/01_smaguc.pdf

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