EDITORIAL
Published on 13 Sep 2021
Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?
doi 10.3389/fgene.2021.758142
- 1,782 views
- 3 citations
- Frontiers in Pediatrics
- Neonatology
- Research Topics
- Newborn Screening for Inborn Errors of Metabolism
Newborn Screening for Inborn Errors of Metabolism
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Articles
ORIGINAL RESEARCH
Published on 28 Jul 2021
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population
doi 10.3389/fgene.2021.631688
- 5,688 views
- 17 citations
CASE REPORT
Published on 23 Jul 2021
Two Novel HSD17B4 Heterozygous Mutations in Association With D-Bifunctional Protein Deficiency: A Case Report and Literature Review
doi 10.3389/fped.2021.679597
- 4,357 views
- 11 citations
REVIEW
Published on 19 Jul 2021
The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health
doi 10.3389/fped.2021.663752
- 18,331 views
- 62 citations
BRIEF RESEARCH REPORT
Published on 31 May 2021
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
doi 10.3389/fped.2021.661416
- 6,948 views
- 14 citations
REVIEW
Published on 26 May 2021
Next-Generation Sequencing in Newborn Screening: A Review of Current State
doi 10.3389/fgene.2021.662254
- 13,659 views
- 56 citations
ORIGINAL RESEARCH
Published on 07 May 2021
Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family
doi 10.3389/fgene.2021.607085
- 2,497 views
- 3 citations
BRIEF RESEARCH REPORT
Published on 07 May 2021
Current Status of Newborn Screening in Southeastern Europe
doi 10.3389/fped.2021.648939
- 9,434 views
- 15 citations
ORIGINAL RESEARCH
Published on 05 May 2021
Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis
doi 10.3389/fped.2021.654527
- 2,439 views
- 6 citations
ORIGINAL RESEARCH
Published on 27 Apr 2021
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
doi 10.3389/fgene.2021.648493
- 5,154 views
- 6 citations
SYSTEMATIC REVIEW
Published on 19 Mar 2021
Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy
doi 10.3389/fped.2021.606194
- 3,934 views
- 9 citations
ORIGINAL RESEARCH
Published on 22 Jan 2021
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population
doi 10.3389/fgene.2020.623125
- 4,081 views
- 1 citation
Published in
Frontiers in Pediatrics
- Neonatology
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Genetics
- 2.8 impact factor
- 5.5 citescore
Impact
- 83kTopic views
- 65kArticle views
- 16kArticle downloads