Results 41 to 50 of about 145,125 (343)

Inborn disorders of the malate aspartate shuttle

Journal of Inherited Metabolic Disease, 2021
Over the last few years, various inborn disorders have been reported in the malate aspartate shuttle (MAS). The MAS consists of four metabolic enzymes and two transporters, one of them having two isoforms that are expressed in different tissues. Together
M. Broeks, C. V. van Karnebeek, R. Wanders, J. Jans, N. Verhoeven-Duif   +4 more
semanticscholar   +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

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Proceedings of the National Academy of Sciences of the United States of America, 2021
Significance While human genes underlying monogenic disorders are expected to undergo negative selection, the factors that impact the intensity of negative selection remain unknown.
Franck Rapaport, B. Boisson, A. Gregor, V. Béziat, S. Boisson-Dupuis, J. Bustamante, E. Jouanguy, A. Puel, J. Rosain, Qian Zhang, Shen-Ying Zhang, J. Gleeson, L. Quintana-Murci, J. Casanova, L. Abel, E. Patin   +15 more
semanticscholar   +1 more source

Indications for pediatric liver transplantation [PDF]

, 1987
Two hundred fifty pediatric (
Andreas G. Tzakis, Baburao Koneru, Carlos O. Esquivel, Esquivel, Esquivel, Gordon, Iwatsuki, Leonard Makowka, National Institutes of Health Consensus Development Conference Statement, Robert D. Gordon, Satoru Todo, Shaw, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Tzakis, Urbach, Wallis W. Marsh   +21 more
core   +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

Coronavirus disease 2019 in patients with inborn errors of immunity: lessons learned

Current opinion in pediatrics, 2021
Purpose of review The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has caused extreme concern for patients with inborn errors of immunity (IEIs).
G. Bucciol, S. Tangye, I. Meyts
semanticscholar   +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  

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

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

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