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Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol

Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Gulmira Zharmakhanova, Victoria Kononets, Saule Balmagambetova, Lyazzat Syrlybayeva, Eleonora Nurbaulina, Zhanna Zhussupova, Svetlana Sakhanova, Dinmukhamed Ayaganov, Svetlana Kim, Akmaral Zhumalina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2024-01-01
Schriftenreihe:Frontiers in Genetics
Schlagworte:
inborn errors of metabolism
tandem mass spectrometry
selective screening
Kazakhstan
amino acids
acylcarnitines
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fgene.2023.1278750/full
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