Results 11 to 20 of about 258,128 (359)

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

Frontiers in Genetics, 2022
Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity.
Xia Li, Jun He, Ling He, Yudong Zeng, Xuzhen Huang, Yechao Luo, Yujiao Li   +6 more
doaj   +1 more source

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +1 more source

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

Orphanet Journal of Rare Diseases, 2021
Background Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene.
Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng, Dongmei Chen   +6 more
doaj   +1 more source

Delivery Modality Affect Neonatal Levels of Inflammation, Stress, and Growth Factors

Frontiers in Pediatrics, 2021
Introduction: As part of the study CODIBINE, Correlations and Diagnoses for Biomarkers in New-borns, the main objective of the study was to explore neonatal inflammation, stress, neurodevelopment, and growth factors after in-labor and pre-labor cesarean ...
Pia Kiilerich, Rikke Cortes, Ulrik Lausten-Thomsen, Nis Borbye-Lorenzen, Solveig Holmgaard, Kristin Skogstrand   +5 more
doaj   +1 more source

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

Orphanet Journal of Rare Diseases, 2021
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.
Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang   +6 more
doaj   +1 more source

Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency

Frontiers in Pediatrics, 2021
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is an inherited disorder of mitochondrial fatty acid β-oxidation that impairs fasting ketogenesis and gluconeogenesis in the liver. Few studies implementing newborn screening (NBS) for CPT1A deficiency
Weifeng Zhang, Yanru Chen, Chunmei Lin, Weilin Peng, Qingliu Fu, Yiming Lin   +5 more
doaj   +1 more source

Congenital Cytomegalovirus Infection: A Narrative Review of the Issues in Screening and Management From a Panel of European Experts. [PDF]

, 2020
Maternal primary and non-primary cytomegalovirus (CMV) infection during pregnancy can result in in utero transmission to the developing fetus. Congenital CMV (cCMV) can result in significant morbidity, mortality or long-term sequelae, including ...
Blázquez-Gamero, D, Delforge, M-L, Foulon, I, Lazzarotto, T, Leruez-Ville, M, Luck, S, Modrow, S   +6 more
core   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Scientific Reports, 2021
Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai   +11 more
doaj   +1 more source

Implementation of SCID Screening in Denmark

International Journal of Neonatal Screening, 2021
Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.
Marie Bækvad-Hansen, Dea Adamsen, Jonas Bybjerg-Grauholm, David Michael Hougaard   +3 more
doaj   +1 more source

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source