Cargando…

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening

BACKGROUND: Newborn screening for primary carnitine deficiency (NBS) is commonly implemented worldwide; however, it has poor sensitivity. This study aimed to evaluate the feasibility of improving screening by including a second-tier genetic assay. RESULTS: An Agena iPLEX assay was developed to ident...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lin, Yiming, Zhang, Weifeng, Huang, Chenggang, Lin, Chunmei, Lin, Weihua, Peng, Weilin, Fu, Qingliu, Chen, Dongmei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7988980/ https://www.ncbi.nlm.nih.gov/pubmed/33757571 http://dx.doi.org/10.1186/s13023-021-01785-6

Ejemplares similares

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
por: Lin, Yiming, et al.
Publicado: (2021)

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
por: Lin, Yiming, et al.
Publicado: (2022)

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn
por: Lin, Yiming, et al.
Publicado: (2020)

Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency
por: Zhang, Weifeng, et al.
Publicado: (2021)

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
por: Wang, Li-Yun, et al.
Publicado: (2013)

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening
por: Lin, Yiming, et al.
Publicado: (2021)

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
por: Lin, Yiming, et al.
Publicado: (2019)

Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
por: Smith, Laurie D., et al.
Publicado: (2020)

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings
por: Lin, Yiming, et al.
Publicado: (2018)

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
por: Burlina, Alberto B., et al.
Publicado: (2019)

A newborn with seizures born to a mother diagnosed with primary carnitine deficiency
por: Chen, Si, et al.
Publicado: (2019)

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
por: Peck, Dawn S., et al.
Publicado: (2020)

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns
por: Crefcoeur, Loek L., et al.
Publicado: (2022)

Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity
por: Shi, Congcong, et al.
Publicado: (2023)

Implementation of second-tier tests in newborn screening for the detection of vitamin B(12) related acquired and genetic disorders: results on 258,637 newborns
por: Pajares, Sonia, et al.
Publicado: (2021)

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
por: Lefèvre, Charles R., et al.
Publicado: (2023)

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan
por: Shigematsu, Yosuke, et al.
Publicado: (2021)

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
por: Pajares, Sonia, et al.
Publicado: (2023)

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
por: Chang, Siyu, et al.
Publicado: (2022)

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China
por: Yang, Xiangchun, et al.
Publicado: (2021)

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
por: Peng, Gang, et al.
Publicado: (2018)

Clinical and genetic analysis of five Chinese patients with urea cycle disorders
por: Zheng, Zhenzhu, et al.
Publicado: (2020)

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
por: Couce, Maria Luz, et al.
Publicado: (2013)

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
por: Chen, Ting, et al.
Publicado: (2023)

Acylcarnitine ratio indices in diagnosing carnitine-acylcarnitine translocase deficiency in newborns
por: Tan, Yifei, et al.
Publicado: (2023)

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
por: Tangeraas, Trine, et al.
Publicado: (2020)

Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters
por: Zeyda, Maximilian, et al.
Publicado: (2021)

Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools
por: Gelb, Michael H.
Publicado: (2018)

Diagnosis of Carnitine Deficiency in Extremely Preterm Neonates Related to Parenteral Nutrition: Two Step Newborn Screening Approach
por: Ramaswamy, Mamatha, et al.
Publicado: (2019)

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report
por: Zheng, Zhenzhu, et al.
Publicado: (2020)

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
por: Strand, Janne, et al.
Publicado: (2020)

Incorporation of second‐tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program
por: Younesi, Sarang, et al.
Publicado: (2022)

Development of a Universal Second-Tier Newborn Screening LC–MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids
por: Kilgore, Matthew B., et al.
Publicado: (2023)

Primary Carnitine Deficiency and Cardiomyopathy
por: Fu, Lijun, et al.
Publicado: (2013)

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?
por: Mador-House, Rachel, et al.
Publicado: (2021)

Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area
por: Zhou, Wei, et al.
Publicado: (2019)

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism
por: Gavrilov, Dimitar K., et al.
Publicado: (2020)

Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency
por: Blom, Maartje, et al.
Publicado: (2021)

Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
por: Zhou, Duo, et al.
Publicado: (2022)

Carnitine Deficiency and Pregnancy
por: de Bruyn, Anouk, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_o2pok9g1uqhp70s3dubptd5c53