Results 61 to 70 of about 29,991 (269)
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds +5 more
wiley +1 more source
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
Whole Exome Sequence Analysis for Inborn Errors of IL‐12/IFN‐γ Axis in Patient with Recurrent Typhoid Fever [PDF]
, 2023 Faaiz ul Hassan +10 more
openalex +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie +9 more
wiley +1 more source
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid +20 more
wiley +1 more source
Journal of Lipid ResearchThe gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero +9 more
doaj +1 more source
Evaluation of a modified triple‐combination anesthesia using dexmedetomidine in mice
Animal Models and Experimental Medicine, EarlyView.Development of a modified ketamine‐free anesthetic (dMMB) using dexmedetomidine. To improve the safety and recovery profile of conventional MMB, we developed dMMB by replacing medetomidine with dexmedetomidine. This ketamine‐free formulation showed comparable anesthetic depth and enhanced thermoregulation, avoiding unnecessary isomers for safer use ...
Masaki Watanabe +5 more
wiley +1 more source
Lysine acylation causes collateral damage in inborn errors of metabolism
, 2022 Eric S. Goetzman, Jerry Vockley
openalex +2 more sources
Annals of Neurology, EarlyView.Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen +8 more
wiley +1 more source
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
doaj +1 more source