Results 21 to 30 of about 45,424 (315)
Journal of Laboratory Medicine, 2021 Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung +5 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction.
Victor Maler +7 more
doaj +1 more source
Assessment of auditory functions in patients with hepatic glycogen storage diseases
The Turkish Journal of Pediatrics, 2022 Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı +9 more
doaj +1 more source
Evolving Inborn Knowledge For Fast Adaptation in Dynamic POMDP Problems [PDF]
, 2020 Rapid online adaptation to changing tasks is an important problem in machine learning and, recently, a focus of meta-reinforcement learning. However, reinforcement learning (RL) algorithms struggle in POMDP environments because the state of the system, essential in a RL framework, is not always visible. Additionally, hand-designed meta-RL architectures
arxiv +1 more source
Endocrinopathies in Inborn Errors of Immunity [PDF]
Frontiers in Immunology, 2021 Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associated clinical feature and a complex network of glands ...
Hirokazu Kanegane +3 more
openaire +4 more sources
Orphanet Journal of Rare Diseases, 2021 Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone ...
Amelie S. Lotz-Havla +6 more
doaj +1 more source
International Journal of Neonatal Screening, 2022 In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak +5 more
doaj +1 more source
Inborn errors of metabolite repair [PDF]
Journal of Inherited Metabolic Disease, 2019 AbstractIt is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely correct.
Veiga‐da‐Cunha, Maria +2 more
openaire +3 more sources
Neonatal mortality among outborn versus inborn babies
Pediatrics and Neonatology, 2021 Background: Most previous studies reported there were higher survival rates if low birth weight babies were born in tertiary perinatal centers (inborn) than elsewhere (outborn).
Wan-Hsuan Chen +7 more
doaj
An ACE2 Triple Decoy that neutralizes SARS-CoV-2 shows enhanced affinity for virus variants
Scientific Reports, 2021 The SARS-CoV-2 variants replacing the first wave strain pose an increased threat by their potential ability to escape pre-existing humoral protection. An angiotensin converting enzyme 2 (ACE2) decoy that competes with endogenous ACE2 for binding of the ...
Shiho Tanaka +15 more
doaj +1 more source