Newer treatments target the defective CFTR protein itself, aiming to improve its function. Alkaptonuria, also known as black urine disease, is a rare inherited disorder that affects the body's ...

liverpool.ac.uk and J.C.Jarvis{at}ljmu.ac.uk Background Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, ...

From the Department of Internal Medicine, University of Texas at Houston Medical School, Houston (D.M.M.), and Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, ...

This PrimeView highlights the epidemiology of paediatric hydrocephalus and accompanies the Primer article on this topic by Kahle and colleagues.

THE report has been made recently of the isolation in urine of a metabolite of chlorpromazine which was designated as a free radical from its electron spin resonance 1. Absorption data revealed no ...

From the Division of Nephrology, Department of Medicine (J.H.I.), Division of Preventive Medicine, Department of Family and Preventive Medicine (J.H.I., C.L.W., M.H.C ...