Newborn Screening for Inborn Errors of Metabolism Volume II

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Articles

CASE REPORT

Accepted on 22 Oct 2025

Lethal Neonatal form of CPT II Deficiency in Consecutive Pregnancies: Fetal-Neonatal characteristics, Biochemical and Molecular review

Tan Yee Yin
Tewani Komal
Amudha Jayanthi Anand
Kong Chen Xi
Victor Samuel Rajadurai
SURESH CHANDRAN

348 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

1,656 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

2,736 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

1,267 views
1 citation

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Frontiers in Pediatrics

Frontiers in Pediatrics

Neonatology

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