Newborn Screening for Inborn Errors of Metabolism Volume II

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Articles

CASE REPORT

Published on 18 Nov 2025

Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review

Y. Y. Tan
K. G. Tewani
A. J. Anand
C. X. Kong
V. S. Rajadurai
S. Chandran

doi 10.3389/fped.2025.1648282

589 views

POLICY AND PRACTICE REVIEWS

Published on 19 Sep 2025

National strategies for screening neural tube defects in Saudi Arabia: activating prevention and early intervention

Mariam AlEissa
Wejdan Hakami
Andreas Dimopoulos
Saleha Abdul Rab
Noor Alsaadoun
Zohaib Asim
Cham Jazieh
Khadijah Ateq
Noara Alhusseini

doi 10.3389/fpubh.2025.1507446

1,801 views

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

3,076 views
2 citations

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

doi 10.3389/fped.2024.1493387

1,316 views
1 citation

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Frontiers in Pediatrics

Frontiers in Pediatrics

Neonatology

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