Deficient cholesterol and/or excessive 7-dehydrocholesterol (7-DHC) may be responsible for the pathology of Smith-Lemli-Opitz syndrome (SLOS). Both high-cholesterol diets given to ameliorate ...

And as soon as the baby came out, red flags started popping — emergency code was punched in, everybody rushed to get her," Maryanela's husband Juan Rubio recalled. Fifteen days after her birth, ...

Desperate for answers, Stewart searched the internet. Eventually, she found information about Smith-Lemli-Opitz syndrome, a rare genetic disorder caused by a cholesterol synthesis defect, which leads ...

Stress can also exacerbate some conditions, like dry eye syndrome, leading to increased eye pain ... What is optic neuritis? Harthan JS, Opitz DL, Fromstein SR, Morettin CE. Diagnosis and treatment of ...

Peters Township senior Lauren Opitz finished off her high school swimming career on a high note. Opitz finished eighth in the 100 backstroke to earn a medal at the finale of the PIAA Class 3A girls ...

Bartter syndrome is a group of similar rare conditions that affect the kidneys. It's genetic, meaning it's caused by a problem with a gene. If you have this condition, too much salt and calcium ...

Every month, there are hundreds of national and international celebrations dedicated to raising awareness and support for ...

Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies ...

Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly ...