Results 81 to 90 of about 1,512,894 (302)

Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review

Frontiers in Endocrinology
BackgroundCytochrome P450 oxidoreductase deficiency (PORD) is an ultra-rare autosomal recessive disorder within the congenital adrenal hyperplasia (CAH) spectrum, characterized by a broad clinical spectrum involving steroidogenesis defects, genital ...
Wenting Zhang, Wenting Zhang, Wenting Zhang, Junfeng Zeng, Junfeng Zeng, Yanjin Li, Yanjin Li, Cailian Xie, Cailian Xie, Zhihao Sun, Zhihao Sun, Guizhen Lyu, Tizhen Yan, Tizhen Yan, Tizhen Yan, Xiaoling Huang, Xiaoling Huang   +16 more
doaj   +1 more source

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Orphanet Journal of Rare Diseases, 2018
Background Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for lysosomal enzymes cause defects in the degradation of glycosaminoglycans (GAGs).
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin   +13 more
doaj   +1 more source

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS

The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs).
Vilarinho, Laura, Célia Nogueira, Ana Marcão, Rocha, Hugo, Carmen Sousa, Gonçalves, Maria Miguel, Sousa, Carmen, Nogueira, Célia, Maria Miguel Gonçalves, Marcão, Ana, Hugo Rocha, Helena Fonseca, Laura Vilarinho, Fonseca, Helena   +13 more
core   +1 more source

Cellular Responses to Mechanical Cues Across Scales: From Fundamental Insights to Translational Potential

Advanced Healthcare Materials, EarlyView.
This review examines how cellular behavior is regulated by mechanical cues transmitted through soft biomaterials, from single‐cell mechanosensing to tissue‐level adaptation. It highlights why physiological relevance, rather than model complexity alone, is critical for translational mechanobiology and introduces a scoring framework linking material ...
Mathias Polz, Manuel P. Kainz, Niklas Haider, Theresa Rienmüller, Kerstin Lenk, Rupert Kargl, Michele Terzano, Gerhard Sommer, Gerhard A. Holzapfel, Julia Fuchs   +9 more
wiley   +1 more source

Patient‐Derived 3D Heart‐On‐a‐Chip Model of Dilated Cardiomyopathy With Embedded Bead‐Based Mapping of Tissue Contractility

Advanced Healthcare Materials, EarlyView.
A heart‐on‐a‐chip model of dilated cardiomyopathy is developed from patient‐derived induced pluripotent stem cells. The model recapitulates key disease phenotypes and enables functional assessment through integrated bead‐based tracking and pillar deflection measurements.
Ali Mousavi, Ludovic Mouttet, Shihao Cui, Yasaman Hekmatnia, Mehran Mottahedi, Ida Derish, Naimeh Rafatian, Mark Aurousseau, Gregor Andelfinger, Renzo Cecere, Houman Savoji   +10 more
wiley   +1 more source

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2019

International Journal of Neonatal Screening, 2020
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

BMC Pediatrics, 2018
Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang, Na Wei, Ming Li, Kun Xie, Jian-Qiu Li, Cheng-Gang Huang, Yong-Sheng Xiao, Wen-Hua Liu, Xi-Gui Chen   +8 more
doaj   +1 more source

Newborn Screening—A Worldwide Endeavour to Protect

For more than 60 years, newborn (or neonatal) screening has flourished through global collaboration, demonstrating that collective action is key to success.
Schielen, Peter C J I, James R. Bonham, Bonham, James R, Habib, Aysha, Khan, Aysha Habib, Amy Gaviglio, Dianne Webster, Webster, Dianne, Gaviglio, Amy, Aysha Habib Khan, Peter C. J. I. Schielen, Howell, R Rodney, R. Rodney Howell   +12 more
core   +1 more source

Biphasic Co‐Delivery of Curcumin and 5‐FU using 3D‐Printed Dissolving Microneedles for Skin Cancer Therapy

Advanced Healthcare Materials, EarlyView.
Using pixel‐aware digital light processing, the authors created high‐resolution, dissolvable microneedles from a PEGDA/VP matrix. These microneedles encapsulate curcumin and 5‐fluorouracil and dissolve in the skin, co‐delivering drugs directly to tumours.
Rutuja N. Meshram, Dimitrios A. Lamprou
wiley   +1 more source

Unraveling the metabolomic architecture of autism in a large Danish population-based cohort

BMC Medicine
Background The prevalence of autism in Denmark has been increasing, reaching 1.65% among 10-year-old children, and similar trends are seen elsewhere.
Filip Ottosson, Francesco Russo, Anna Abrahamsson, Nadia MacSween, Julie Courraud, Kristin Skogstrand, Olle Melander, Ulrika Ericson, Marju Orho-Melander, Arieh S. Cohen, Jakob Grove, Preben Bo Mortensen, David M. Hougaard, Madeleine Ernst   +13 more
doaj   +1 more source