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Frontiers in GeneticsInborn 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 +10 more
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Understanding Morality in the Religion-and-Science Context [PDF]
, 2012 Recent developments in biotechnology require re/definition of human \"being.\" In this paper, the author suggests that the term \"human being \" is substituted with \"human betweenness.\" This substitution emerges from a philosophical/theological reading
Park, Iljoon
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Food allergy as one of the faces of primary immunodeficiency [PDF]
Exploration of Asthma & AllergyFood allergy is characterized by an abnormal immune reaction that occurs reproducibly upon exposure to a specific food. This immune response can lead to a variety of symptoms, the prevalence of food allergies has increased in recent decades, most likely ...
Polina Kostova +3 more
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Focus on the treatment of hereditary muscular diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 DOI: 10.3969/j.issn.1672-6731.2019.05 ...
Cheng ZHANG
doaj
Pulmonary involvement in siblings with Gaucher disease type III [PDF]
Vojnosanitetski Pregled, 2011 Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a ...
Đorđević Maja +5 more
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Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]
, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R +6 more
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Red flags to suspect inborn errors of immunity in patients with autoimmune diseases
Biomédica: revista del Instituto Nacional de SaludInborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are ...
Natalia Vélez +6 more
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Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017 El síndrome Weaver es una enfermedad genética poco frecuente, caracterizada por una estatura alta, una apariencia facial típica y una discapacidad intelectual variable.
Elayne Esther Santana Hernández +1 more
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Biomédica: revista del Instituto Nacional de SaludIntroduction. Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. Objective.
Mónica Fernandes Pineda +1 more
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PLoS Genetics, 2020 Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they ...
Huimin Na +4 more
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