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Open access

Research article

First published 2024

Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México

María del Rosario Torres-Sepúlveda, Laura E. Martínez de Villarreal, Jesús Zacarías Villarreal-Pérez [...]

Sage Open Pediatrics

Retricted access

Research article

First published 2013-4

Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

J. Nunes, S. Loureiro, S. Carvalho [...]

The Neuroradiology Journal

Open access

Review article

First published 2018-6-30

Translational research advances a new era of prenatal diagnosis and newborn screening

Lee P. Shulman, Philip M. Farrell

Translational Science of Rare Diseases

Free access

Research article

First published 2016-6

The status of neonatal screening in China,2013

Kun Zhong, Wei Wang, Falin He [...]

Journal of Medical Screening

Retricted access

Research article

First published 2014-8

Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn

R. Agarwal, G.L. Feldman, J. Poulik [...]

Journal of Neonatal-Perinatal Medicine

Open access

Research article

First published 2016-8-26

Approach to diagnosis of metabolic diseases

Enid Gilbert-Barness, Philip M. Farrell

Translational Science of Rare Diseases

Open access

Case report

First published 2026

Acute Retinal Necrosis in an Infant With Corneal and Macular Scarring

Zuhair Zaidi, Cody Hansen, Sukru Dogan [...]

Journal of VitreoRetinal Diseases

Retricted access

Research article

First published 2011-07

Engineered Heart Tissue Model of Diabetic Myocardium

Hannah Song, Peter W. Zandstra, Milica Radisic

Tissue Engineering Part A: Research Advances

Retricted access

Research article

First published 2011-10

Providing Genetic Risk Information to Parents of Newborns with Sickle Cell Trait: Role of the General Practitioner in Neonatal Screening

Fleur Vansenne, Corianne A.J.M. de Borgie, Monica Legdeur [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2016-11-7

Disorders of branched chain amino acid metabolism

I. Manoli, C.P. Venditti

Translational Science of Rare Diseases

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