Results 41 to 50 of about 3,245 (185)
Read the free Plain Language Summary for this article on the Journal blog. Abstract Human‐driven landscape change, particularly urbanization, is reshaping pollinator communities, yet the functional traits that mediate species persistence remain poorly understood. Dietary specialization is commonly used to predict species vulnerability.
Yan Yang +5 more
wiley +1 more source
ABSTRACT Introduction/Aim Patients with myotonic dystrophy type1 (DM1) have reduced lifespan. This study aimed to quantify mortality risks, and evaluate causes and time trends in DM1. Methods We identified 1021 DM1 patients and 15,104 matched DM1‐free controls from the United Kingdom (UK) Clinical Practice Research Datalink.
Rotana Alsaggaf +5 more
wiley +1 more source
Old disease—New reflections: Gaucher, immunity, and inflammation
Abstract Gaucher disease (GD) is the most common lysosomal storage disease. It is a multisystemic metabolic disease caused by GBA pathogenic mutations. Although the general symptoms have been known for a long time, new treatment possibilities, the detection of different biomarkers, and innovations in diagnosis and follow‐up have paved the way for ...
Can Veysel Şoroğlu, Ezgi Gizem Berkay
wiley +1 more source
Genetic Counseling in Retinitis Pigmentosa [PDF]
During his lifetime the practicing ophthalmologist will see more than a few retinitis pigmentosa cases. It is his responsibility not only to diagnose and prognosticate this eye disease, but also to set aside a little time in which to advise the patient ...
Noah, Van B.
core +1 more source
Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation [PDF]
A 7-year-old girl with progressive ataxia, spasticity, supranuclear ophthalmoplegia, and sea-blue histiocytes in her bone marrow underwent orthotopic liver transplantation for hepatocellular carcinoma.
Bergman, I +8 more
core
Mucolipidoses, Multiple Sulfatase Deficiency, and Cathepsin K and C Deficiency [PDF]
Mucolipidosis type II/III (ML II/III) and multiple sulfatase deficiency (MSD) share clinical features with the mucopolysaccharidoses. Both ML II/III and MSD result from enzymatic defects that affect the post-translational modification of lysosomal ...
Huidekoper, Hidde, Oussoren, Esmeralda
core +1 more source
Rapid purification of human lysosomal membranes, characterisation of the detergent resistent microdomains, purification and reconstitution of the vacuolar proton pump (V-ATPase) [PDF]
The lysosomal membrane is a dynamic environment where specific interactions among proteins and between proteins and lipids occur. These interactions are necessary for the proper functioning of the lysosomal apparatus that allows the passage of molecules ...
Chandramohanadas, Rajesh +1 more
core +1 more source
History of study on metabolic myopathy
The developmental history of metabolic myopathy is reviewed both chronologically and from different classifications. Searching the specific biomarkers of different metabolic myopathies, and specific diagnostic and therapeutic measures targeting these ...
Jian YIN +4 more
doaj
Abstract Book: 25th Congress of the European Hematology Association Virtual Edition, 2020
HemaSphere, Volume 4, Issue S1, Page 1-1168, June 2020.
wiley +1 more source

