Cargando…

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

BACKGROUND: Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lin, Yiming, Lin, Bangbang, Chen, Yanru, Zheng, Zhenzhu, Fu, Qingliu, Lin, Weihua, Zhang, Weifeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642906/ https://www.ncbi.nlm.nih.gov/pubmed/34863234 http://dx.doi.org/10.1186/s13023-021-02126-3

Ejemplares similares

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)

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

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

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

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)

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

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

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia
por: Lin, Yiming, et al.
Publicado: (2018)

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)

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)

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)

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

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)

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)

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

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
por: Schwantje, Marit, et al.
Publicado: (2022)

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)

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

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

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)

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)

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
por: Bo, Ryosuke, et al.
Publicado: (2020)

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)

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child
por: van den Heuvel, Lieke M., et al.
Publicado: (2023)

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
por: Kang, Eungu, et al.
Publicado: (2018)

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan
por: Odagiri, Shino, et al.
Publicado: (2021)

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience
por: Schiergens, Katharina A., et al.
Publicado: (2021)

Prevalence of Carnitine Deficiency and Decreased Carnitine Levels in Patients on Peritoneal Dialysis
por: Shimizu, Satoshi, et al.
Publicado: (2019)

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review
por: Lin, Yiming, et al.
Publicado: (2019)

Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China
por: Yang, Yuqi, et al.
Publicado: (2019)

High frequency of biotinidase deficiency in Italian population identified by newborn screening
por: Funghini, Silvia, et al.
Publicado: (2020)

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
por: Dowsett, Leah, et al.
Publicado: (2017)

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
por: Chen, Yao, et al.
Publicado: (2021)

Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
por: Louis, Lebreton, et al.
Publicado: (2022)

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening
por: Yu, Seok-Ho, et al.
Publicado: (2020)

Screening of free carnitine and acyl-carnitine status in patients with Familial Mediterranean Fever
por: Kiykim, E, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_m0osfceuc5u7up5vqn4c20a8c9