Results 91 to 100 of about 58,847 (249)
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron +8 more
wiley +1 more source
A CASE OF CONGENITAL VULVAR ANUS CURED BY OPERATION. [PDF]
, 1884 JamesH. Aveling
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott +5 more
wiley +1 more source
Chemistry – A European Journal, Volume 28, Issue 70, December 15, 2022., 2022 The synthesis and characterization of bimetallic C^C* platinum(II) complexes with bridging diphenylformamidinates is presented alongside with two solid‐state structures. The phosphorescent compounds show excellent emissive behavior with quantum yields of up to 90 % and lifetimes around 2 μs.
Sergej Stipurin, Thomas Strassner
wiley +1 more source
A Novel Merocyanine Derivative for Probing Polarity at Cubosome Interfaces
Asian Journal of Organic Chemistry, Accepted Article.This study reports the development of a synthetic route for the chemical environment sensor C10SP, designed for incorporation into phytantriol‐based cubosomes. The molecule combines an apolar aliphatic tail for lipid bilayer anchoring with a polarity‐sensitive chromophore.
Marcelo J. Eberhardt +3 more
wiley +1 more source
Angewandte Chemie International Edition, Accepted Article.The intracellular reduction of Pt(IV) prodrugs is crucial for their anticancer efficacy. However, the major components responsible for the reduction of Pt(IV) complexes within live cells remain elusive. Herein, we developed an aminoluciferin‐functionalized Pt(IV) complex, Pt‐Luc, that can be used as a bioluminescent reporter for real‐time monitoring of
Shu Chen +10 more
wiley +1 more source
Diamond Chemistry: Advances and Perspectives
Angewandte Chemie International Edition, Accepted Article.Diamond as a material has many unique properties. More recently, diamond has emerged as a material with a wide range of applications in chemistry and biology. The high intrinsic stability of diamond, coupled with the ability to modify diamond surfaces with a wide range of species via highly stable covalent linkages, provides a wealth of opportunity to ...
Nianjun Yang +2 more
wiley +1 more source