Results 1 to 10 of about 39,998 (271)

dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening [PDF]

International Journal of Neonatal Screening, 2022
The Recommended Uniform Screening Panel (RUSP) contains more than forty metabolic disorders recommended for inclusion in universal newborn screening (NBS). Tandem-mass-spectrometry-based screening of metabolic analytes in dried blood spot samples identifies most affected newborns, along with a number of false positive results. Due to their influence on
Gang Peng, Yunxuan Zhang, Hongyu Zhao, Curt Scharfe   +3 more
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Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories [PDF]

Annual Review of Pathology: Mechanisms of Disease, 2020
It was first demonstrated in the late nineteenth 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 constitution.
Jean‐Laurent Casanova, Laurent Abel
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Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population [PDF]

Frontiers in Genetics, 2021
Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spectrometry (MS/MS) is an effective method for early diagnosis and presymptomatic treatment to prevent ...
Jianqiang Tan, Dayu Chen, Rongni Chang, Lizhen Pan, Jin‐Ling Yang, Dejian Yuan, Lihua Huang, Tizhen Yan, Haiping Ning, Jiangyan Wei, Ren Cai   +10 more
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Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity [PDF]

Seminars in Immunology, 2014
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does
Jacinta Bustamante, Stéphanie Boisson‐Dupuis, Laurent Abel, Jean‐Laurent Casanova   +3 more
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Metabolism as a complex genetic trait, a systems biology approach: Implications for inborn errors of metabolism and clinical diseases [PDF]

Journal of Inherited Metabolic Disease, 2008
SummaryMultifactorial and polygenic inheritance is commonly recognized for many genetic conditions including physical anomalies, complex congenital malformation syndromes, and even common disorders such as adult‐onset diabetes mellitus. It has only recently been suggested as a mechanism for inheritance in inborn errors of metabolism.
Jerry Vockley
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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population [PDF]

Frontiers in Genetics, 2019
Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs. Next generation sequencing (NGS) targeting hundreds of IMEs-associated genes as a follow-up test in expanded newborn screening has been used for genetic analysis
Ting Wang, Jun Ma, Qin Zhang, Ang Gao, Qi Wang, Hong Li, Jingjing Xiang, Benjing Wang   +7 more
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Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022 [PDF]

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,840 newborn patients admitted for various medical conditions at the Children’s Hospital of ...
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi‐Yang Tang, Xiaoyan He   +10 more
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Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity [PDF]

Abstract Background Accurate interpretation of genetic variants requires a quantitative estimate of how likely a variant is to contribute to disease, accounting for both observed and unobserved causal alleles across different inheritance modes ...
Dylan Lawless, Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless   +9 more
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Evaluating the Role of Genetic Testing for Inborn Errors of Immunity in Pediatric Patients with Very Early-Onset and Early-Onset Inflammatory Bowel Disease

Journal of Human Immunity
Introduction The incidence of inflammatory bowel disease (IBD) has significantly increased in developing countries over the last decade with a rising prevalence among the pediatric population. Very early-onset IBD (VEOIBD), defined as IBD in children younger than 6 years, requires a comprehensive diagnostic approach
Sarah Afzal, Elisabeth G. Hoyte, Rachel Bensen, David B. Lewis, Alka Goyal, Yaël Gernez   +5 more
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Human medicines European public assessment report (EPAR): Respreeza, alpha1-proteinase inhibitor (human), Genetic Diseases, Inborn,Lung Diseases, Date of authorisation: 20/08/2015, Revision: 6, Status: Authorised [PDF]

Case Medical Research, 2019
Kernel Networks Inc.
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