Results 71 to 80 of about 131,687 (292)

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

BMC Medical Genetics, 2019
Background Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene.
Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu   +8 more
doaj   +1 more source

Neonatal hearing screening in Bulgaria for the period 2016–2019

, 2022
F. Mihaylova, Petar Rouev
openalex   +2 more sources

Exclusive Breastfeeding Drives AMPK‐Dependent Thermogenic Memory in BAT and Promotes Long‐Term Metabolic Benefits in Offspring

Advanced Science, EarlyView.
Exclusive breastfeeding establishes a thermogenic memory in brown adipose tissue by activating the HIF1AN/AMPK/α‐ketoglutarate axis via milk‐derived extracellular vesicles enriched in miR‐125a‐5p. This programming preserves metabolic health, while αKG supplementation restores BAT function under mixed feeding, offering strategies to mitigate the ...
Ningxi Wu, Anwen Yin, Xiang Yu, Mingxin Wang, Jiahui Zhang, Kerong Liu, Yutong Hou, Minkai Cao, Yiting Zhang, Xiaoxiao Zhang, Yao Gao, Xirong Guo, Le Zhang, Yun Li   +13 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

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

GH Therapy in Non–Growth Hormone-Deficient Children

Children
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD).
Chiara Guzzetti, Anastasia Ibba, Valeria Incandela, Sandro Loche   +3 more
doaj   +1 more source

Inactivation of AXL in Cardiac Fibroblasts Alleviates Right Ventricular Remodeling in Pulmonary Hypertension

Advanced Science, EarlyView.
Pulmonary hypertension (PH) is a progressive condition with high morbidity and mortality, largely owing to right ventricular (RV) failure resulting from maladaptive remodeling. Our study provides strong evidence in support of a critical, detrimental role for AXL as a previously unrecognized determinant driving RV fibrotic pathology in PH.
Li‐Wei Wu, Min Chen, Chen‐Yu Jiang, Dai‐Ji Jiang, Xu Zhang, Xiao‐He Xu, Yi‐Wei Liu, Bei Feng, Lin‐Cai Ye, Yang‐Yang He, Xu Huang, Yi‐Chi Zhang, Xing‐Liang Zhou, Yi Shen, Tian‐Yu Liu, Li‐Jun Fu, Yi Yan, Hao Zhang   +17 more
wiley   +1 more source

ASS1 gene mutation in a neonate with citrullinemia type Ⅰ [PDF]

Jichu yixue yu linchuang, 2020
Objective To detect blood acylcarnitine and genes in a newborn with suspected citrullinemia, and to detect gene mutations in their parents, so as to clarify their diagnosis and follow-up investigations.
LYU Ya-nan, SONG Dong-po, WANG Wei-qing, CHEN Yan-ping
doaj  

Neonatal Foreskin Substrate Has Limitations for the Immunofluorescent Screening of Monoclonal Antibodies

, 2021
David T. Woodley, Therese Ernst, Melinda J. Reese, Nancy Ogden, W. Ray Gammon, Robert A. Briggaman, Ronald J. Falk   +6 more
openalex   +1 more source

Assessing the Utility of Neonatal Screening Assessments in Early Diagnosis of Cerebral Palsy in Preterm Infants [PDF]

, 2022
Rebecca Connors, Vathana Sackett, Catherine Machipisa, Kenneth Tan, Pramod Pharande, Lindsay Zhou, Anil K. Malhotra   +6 more
openalex   +1 more source