Results 21 to 30 of about 4,846,243 (320)
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 +16 more
semanticscholar +1 more source
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 +10 more
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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 +8 more
semanticscholar +1 more source
Progress in lipid research, 2023 Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the underlying mechanisms and the development of efficient therapies represent formidable challenges for biomedical research.
Frank W. Pfrieger
semanticscholar +1 more source
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee [PDF]
, 2021 The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020.
Sullivan, Kathleen E +45 more
core +1 more source
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 +3 more
openaire +4 more sources
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 +3 more
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A journey through the history of Neurogenetics
Arquivos de Neuro-Psiquiatria, 2021 Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era.
Thiago Yoshinaga Tonholo SILVA +3 more
doaj +1 more source
Systematic genetic analysis of pediatric patients with autoinflammatory diseases
Frontiers in Genetics, 2023 Monogenic autoinflammatory diseases (AID) encompass a growing group of inborn errors of the innate immune system causing unprovoked or exaggerated systemic inflammation.
Yvonne Poker +15 more
semanticscholar +1 more source
Vohwinkel syndrome: ichthyosiform variant in a family [PDF]
Anais Brasileiros de Dermatologia, 2018 : Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr +2 more
doaj +1 more source