Associations between purine metabolites and monoamine neurotransmitters in first-episode psychosis [PDF]
, 2013 Schizophrenia (SZ) is a biochemically complex disorder characterized by widespread defects in multiple metabolic pathways whose dynamic interactions, until recently, have been difficult to examine.
Dougherty, George G. +5 more
core +1 more source
Old disease—New reflections: Gaucher, immunity, and inflammation
Journal of Cellular and Molecular Medicine, Volume 28, Issue 20, October 2024.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
Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation [PDF]
, 1986 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
Rapid purification of human lysosomal membranes, characterisation of the detergent resistent microdomains, purification and reconstitution of the vacuolar proton pump (V-ATPase) [PDF]
, 2006 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
Genetic Counseling in Retinitis Pigmentosa [PDF]
, 1972 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
Abstract Book: 25th Congress of the European Hematology Association Virtual Edition, 2020
, 2020 HemaSphere, Volume 4, Issue S1, Page 1-1168, June 2020.
wiley +1 more source
Vortex Keratopathy in a Patient Receiving Vandetanib for Non-Small Cell Lung Cancer [PDF]
, 2011 We report a case of vortex keratopathy in a patient treated with vandetanib for non-small cell lung cancer (NSCLC). A 44-year-old female who underwent two cycles of chemotherapy for NSCLC complained of visual blurring in both eyes after the initiation of
Ciardiello +24 more
core +2 more sources
History of study on metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 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
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To study the muscular pathological characteristics in riboflavin-responsive lipid storage myopathy before and after treatment. Methods A 10-year follow-up visit was made on a patient with riboflavin-responsive lipid storage myopathy, and ...
Ding-bang CHEN +8 more
doaj