Results 21 to 30 of about 48,814 (291)

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

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, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

PKU and COVID19: How the pandemic changed metabolic control

Molecular Genetics and Metabolism Reports, 2021
Background: COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management ...
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci, Alice Re Dionigi, Andrea Scopari, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali   +9 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, Fatih Ezgü, İlyas Okur, Aslı İnci, Ayşe Kılıç, Ekin Özsaydı, Bülent Gündüz, Hakan Tutar, Nuriye Yıldırım Gökay, Leyla Tümer   +9 more
doaj   +1 more source

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, Gard Nelson, C. Anders Olson, Oleksandr Buzko, Wendy Higashide, Annie Shin, Marcos Gonzalez, Justin Taft, Roosheel Patel, Sofija Buta, Ashley Richardson, Dusan Bogunovic, Patricia Spilman, Kayvan Niazi, Shahrooz Rabizadeh, Patrick Soon-Shiong   +15 more
doaj   +1 more source

Clinical risk score for central precocious puberty among girls with precocious pubertal development: a cross sectional study

BMC Endocrine Disorders, 2021
Background The gold standard for the diagnosis of central precocious puberty (CPP) is gonadotropin-releasing hormone (GnRH) or GnRH analogs (GnRHa) stimulation test. But the stimulation test is time-consuming and costly.
Jingyu You, Xianying Cheng, Xiaojing Li, Mingqing Li, Li Yao, Feihong Luo, Ruoqian Cheng, Li Xi, Jiangfeng Ye   +8 more
doaj   +1 more source

Advances in related research about hereditary connective tissue diseases and the occurrence and rupture of intracranial aneurysm

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and ...
CHEN Rui⁃qi, GUO Rui, YOU Chao
doaj  

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 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, Van Schaftingen, Emile, Bommer, Guido T.   +2 more
openaire   +3 more sources

Cystinuria: an inborn cause of urolithiasis [PDF]

Orphanet Journal of Rare Diseases, 2012
Orphanet journal of rare diseases 7, 19 (2012).
Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus   +2 more
openaire   +5 more sources

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study

Frontiers in Oral Health
IntroductionThis study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.MethodsA cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a
Samuel Trezena, Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D. Coletta, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior   +10 more
doaj   +1 more source