Results 281 to 290 of about 4,846,243 (320)

Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award

Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley   +1 more source

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, 2021
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.
Laurent Abel, Jean-Laurent Casanova
exaly   +4 more sources

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Approach to Genetic Diagnosis of Inborn Errors of Immunity Through Next-Generation Sequencing

Molecular Immunology, 2021
Gholamreza Azizi, Manisha Madkaikar, Umair Ahmed Bargir   +2 more
exaly   +2 more sources

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
Ang Gao
exaly   +4 more sources

Disparities in Genetic Testing for Inborn Errors of Immunity

Journal of Allergy and Clinical Immunology: in Practice
Background: Inequities in genetic testing have been documented in a range of diseases, and no-charge genetic testing programs have been proposed as a means to enhance access.
Mei-Sing Ong, Jocelyn R Farmer, Karen M Gilbert   +2 more
exaly   +2 more sources

Integrated genetic databases in the study of neuropsychiatric diseases: Inborn errors of cerebral metabolic pathways?

Progress in Neuro-Psychopharmacology and Biological Psychiatry, 1991
1. Genetic databases are an expanding and readily accessible repository of information on the mapping and sequencing of the human genome, and that of other model organisms. The integration and application of this information to neuropsychiatric disease is illustrated using neuroendocrine and neuropharmacologic data, computerized and other genetic ...
M, Jaworski, E, Edwards
openaire   +2 more sources

Disease Spectrum, Prevalence, Genetic Characteristics of Inborn Errors of Metabolism in 21,840 Hospitalized Infants in Chongqing, China, 2017-2022

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, Jingli Yang
exaly   +4 more sources