Newborn Screening for Inborn Errors of Metabolism Volume II

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REVIEW

Published on 20 Feb 2025

Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis

Victoria Kononets
Gulmira Zharmakhanova
Saule Balmagambetova
Lyazzat Syrlybayeva
Gulshara Berdesheva
Zhanna Zhussupova
Aidana Tautanova
Yergen Kurmambayev

doi 10.3389/fped.2025.1463294

518 views

CASE REPORT

Published on 27 Nov 2024

Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review

Yinxia Dang
Juanli Zhang
Fan Wang

Congenital isolated adrenocorticotropic hormone deficiency in a newborn caused by TBX19 mutation: a case report and literature review

doi 10.3389/fped.2024.1493387

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Frontiers in Pediatrics

Frontiers in Pediatrics

Neonatology

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