Results 1 to 10 of about 2,257,975 (340)

Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots [PDF]

International Journal of Neonatal Screening
The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism, phenylalanine
Peter C. J. I. Schielen, Dianne Webster, J. Gerard Loeber, James R. Bonham   +3 more
doaj   +2 more sources

Embracing the future: Neonatal screening for epileptic syndromes. [PDF]

Epilepsia
Nabbout R, Kuchenbuch M.
europepmc   +3 more sources

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2021

International Journal of Neonatal Screening, 2022
Rigorous peer-reviews are the basis of high-quality academic publishing [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2020

International Journal of Neonatal Screening, 2021
Peer review is the driving force of journal development, and reviewers are gatekeepers who ensure that International Journal of Neonatal Screening maintains its standards for the high quality of its published papers [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Acknowledgment to the Reviewers of International Journal of Neonatal Screening in 2022

International Journal of Neonatal Screening, 2023
High-quality academic publishing is built on rigorous peer review [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

BMC Medical Genetics, 2020
Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case presentation In this
Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu   +7 more
doaj   +1 more source

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

Orphanet Journal of Rare Diseases, 2021
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
Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen   +7 more
doaj   +1 more source

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

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

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