GM3 synthase, encoded by ST3GAL5, initiates synthesis of all downstream cerebral gangliosides.
Here, we present biochemical, functional, and natural history data from 50 individuals …

PURPOSE Recent national guidelines encourage a trial of labor after cesarean (TOLAC) as
a means of increasing vaginal births after cesarean (VBACs) and decreasing the high US …

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel
testing to confirm the specific aetiology of disease, enable appropriate therapeutic …

Identification of the fragment ion species associated with the ion reaction mechanism of
triacetone triperoxide (TATP), a homemade peroxide-based explosive, is presented. Ion mobility …

Objective To describe a cluster of cases of pericarditis in a midwestern family of German and
Danish ancestry. Patients and Methods Retrospective review of available medical records …

Old Order Amish and Mennonites, or Plain populations, are a growing minority in North
America with unique health care delivery and access challenges coupled with higher …

Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase)
gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the …

Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical
presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who …

The prevalence of allergic diseases is increasing worldwide, particularly in Westernized
regions. Epidemiologic studies from several continents have shown an association between …

A Barbier approach employing benzyl halides and trimethyltin chloride in the presence of
magnesium metal provides a facile preparation of benzyltrimethylstannanes which react with …