Results 11 to 20 of about 280,708 (291)

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

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
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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
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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
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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
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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
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Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]

, 2018
: Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni, ARTIOLA, CRISTIANA, CARDUCCI, Carla, CARDUCCI, Claudia, D'AMICI, SIRIO, GIOVANNIELLO, TERESA, Manuela Tolve, PASQUALI, Amelia, PIZZUTI, Antonio, Vincenzo Leuzzi   +9 more
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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

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
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Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2018

International Journal of Neonatal Screening, 2019
Rigorous peer-review is the corner-stone of high-quality academic publishing[...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source