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The Journal of Obstetrics and Gynecology of India

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25-05-2023 | Neonatal Screening | Case Report

Newborn Genetic Screening: Significance in Early Diagnosis of an Infant with Mitochondrial DNA Depletion Syndrome-6

Authors: Sanjay A. Gupte, Manju Kurup, Shweta M. Jangam, Preeti Arora, Sarjan S. Shah

Published in: The Journal of Obstetrics and Gynecology of India | Issue 2/2024

Excerpt

Newborn genetic screening assists in identifying the risk of having rare and serious medical conditions that can affect normal development so that preventable developmental delay, disability, morbidity, and mortality during infancy and childhood can be avoided [1]. …

Raveendran A, Chacko TJ, Prabhu P, et al. Need and viability of newborn screening programme in India: report from a pilot study. Int J Neonatal Screen. 2022;8(2):26. https://doi.org/10.3390/ijns8020026.CrossRefPubMedPubMedCentral

El-Hattab AW, Wang J, Dai H, et al. MPV17-related mitochondrial DNA maintenance defect: new cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018;39(4):461–70. https://doi.org/10.1002/humu.23387.CrossRefPubMed

Jacinto S, Guerreiro P, de Oliveira RM, et al. MPV17 mutations are associated with a quiescent energetic metabolic profile. Front Cell Neurosci. 2021. https://doi.org/10.3389/fncel.2021.641264.CrossRefPubMedPubMedCentral

Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, et al. Next-generation sequencing in newborn screening: a review of current state. Front Genet. 2021. https://doi.org/10.3389/fgene.2021.662254.CrossRefPubMedPubMedCentral

Shimura M, Kuranobu N, Ogawa-Tominaga M, et al. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet J Rare Dis. 2020. https://doi.org/10.1186/s13023-020-01441-5.CrossRefPubMedPubMedCentral

Title: Newborn Genetic Screening: Significance in Early Diagnosis of an Infant with Mitochondrial DNA Depletion Syndrome-6
Authors: Sanjay A. Gupte
Manju Kurup
Shweta M. Jangam
Preeti Arora
Sarjan S. Shah
Publication date: 25-05-2023
Publisher: Springer India
Keyword: Neonatal Screening
Published in: The Journal of Obstetrics and Gynecology of India / Issue 2/2024
Print ISSN: 0971-9202
Electronic ISSN: 0975-6434
DOI: https://doi.org/10.1007/s13224-023-01770-y

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Newborn Genetic Screening: Significance in Early Diagnosis of an Infant with Mitochondrial DNA Depletion Syndrome-6

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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