Results 1 to 10 of about 596,623 (118)

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

World Journal of Pediatrics, 2023
Background Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.
Ru-lai Yang, G. Qian, Ding-wen Wu, Jing-kun Miao, X. Yang, Ben-qing Wu, Yan Yan, Hai-bo Li, X. Mao, Jun He, Huan Shen, Hui Zou, Shu-Yuan Xue, Xiao-Ze Li, Ting-Ting Niu, Rui Xiao, Zheng-Yan Zhao   +16 more
semanticscholar   +1 more source

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Molecular Genetics & Genomic Medicine, 2023
The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China.
Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang   +8 more
semanticscholar   +1 more source

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Nature Communications, 2021
Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios
Yurong Cheng, P. Schlosser, Johannes Hertel, P. Sekula, P. Oefner, U. Spiekerkoetter, J. Mielke, Daniel F. Freitag, M. Schmidts, Peter J. Florian Kai-Uwe Oefner Kronenberg Eckardt, Florian Kronenberg, K.-U. Eckardt, Florian Kronenberg, K.-U. Eckardt, I. Thiele, Yong Li, A. Köttgen   +16 more
semanticscholar   +1 more source

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

Frontiers in Physiology, 2021
Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
C. Montanari, S. Parolisi, E. Borghi, L. Putignani, G. Bassanini, J. Zuvadelli, Cristina Bonfanti, Albina Tummolo, C. Dionisi Vici, Giacomo Biasucci, A. Burlina, M. T. Carbone, E. Verduci   +12 more
semanticscholar   +1 more source

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

Indian Journal of Pediatrics, 2021
To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India.
H. Lashkari, M. Madkaikar, A. Dalvi, Maya Gupta, J. Bustamante, Madhubala Sharma, A. Rawat, P. Bhatia, K. Bhat, Sadashiva Rao, N. Kamath, Faheem Moideen, S. Latour, Sarah Winter, G. Bhavani, K. Girisha   +15 more
semanticscholar   +1 more source

Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.

Annual Review of Pathology, 2020
It was first demonstrated in the late 19th century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial ...
J. Casanova, L. Abel
semanticscholar   +1 more source

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of Clinical Immunology, 2022
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 ...
S. Tangye, W. Al-Herz, A. Bousfiha, C. Cunningham-Rundles, J. Franco, S. Holland, C. Klein, T. Morio, É. Oksenhendler, C. Picard, A. Puel, J. Puck, M. Seppänen, R. Somech, H. Su, K. Sullivan, T. Torgerson, I. Meyts   +17 more
semanticscholar   +1 more source

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs

Journal of Clinical Investigation, 2023
Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
J. Casanova, Mark S. Anderson
semanticscholar   +1 more source

Personalized hematopoietic stem cell transplantation for inborn errors of immunity

Frontiers in Immunology, 2023
Patients with inborn errors of immunity (IEI) have been transplanted for more than 50 years. Many long-term survivors have ongoing medical issues showing the need for further improvements in how hematopoietic stem cell transplantation (HSCT) is performed
M. Slatter, S. Lum
semanticscholar   +1 more source

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Diagnostics, 2020
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described.
Yasmin Tatour, T. Ben-Yosef
semanticscholar   +1 more source