Fabry disease is an inherited lysosomal storage disorder caused by deficient α-galactosidase A activity. Many missense mutations in Fabry disease often cause misfolded gene products, which leads to their retention in the endoplasmic reticulum by the quality control system; they are then removed by endoplasmic reticulum-associated degradation. We discovered that a potent α-galactosidase A inhibi...

OBJECTIVE To review baboon syndrome (BS). DATA SOURCES Date sources were obtained from PubMed and Google Scholar: Photographs of baboon syndrome were obtained from our patient. STUDY SELECTIONS PubMed and Google Scholar were searched up to June 30, 2010. The search terms were "baboon syndrome", "SDRIFE" and "thimerosal allergy". Reverse references from relevant articles and Google Scholar w...

Some matrix chemicals used in MALDI mass spectrometry are not sufficiently vacuum-stable and therefore suitable for extended imaging experiments. Caging the matrices by covalent attachment of a photocleavable group renders them vacuum-stable, as reported Qiuqin Zhou et al. their Research Article (e202217047). The caged is eventually uncaged situ UV laser ion source. Thereby, original liberated,...

The Brazilian Nationwide Population Screening Program for Diabetes, conducted in 2001, diagnosed 346,168 new cases. Although unexpected, approximately 65,000 previously diabetic individuals participated. We describe their characteristics compared to new cases, based on data obtained by a follow-up study of a subsample of 4991 positively screened from a representative sample of 90,106 individual...

We located a comprehensive sample of studies (1980-1999) on the psychosocial and pharmacological treatment of child and adolescent depression through an extensive literature search. Articles that met the inclusionary criteria were subsequently analyzed. The outcome data from 38 studies were extracted and converted into effect sizes (ESs). Comparisons of main effects, demographic, and quality of...

BACKGROUND Supra-physiological concentrations of ascorbate, vitamin C, in blood, greater than 1mM, achieved through intravenous administration (IV), are being tested in clinical trials to treat human disease, e.g. cancer. These trials need information on the high levels of ascorbate achieved in blood upon IV administration of pharmacological ascorbate so appropriate clinical decisions can be ma...