. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . v Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Methods . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4 Results . . . . . . . . . . . . . . . . . . . . . . ...

In 1921, Pearl S. Buck gave birth to a daughter, Carol, who became severely retarded and was eventually institutionalized at the Vineland Training School in New Jersey. To help pay for her daughter's care, Buck wrote The Good Earth in 1931, and then other novels and biographies about her life in China, for which she was awarded the Nobel and Pulitzer Prizes, and honored around the world. Years ...

Inhibition of L-type amino acid transport with non-physiological amino acids in the Pahenu2 mouse model of phenylketonuria", Master's Thesis,

In 1957 we demonstrated a defect of 5-hydroxyindole metabolism in 10 patients with phenylketonuria and suggested that, in view of the probable importance of 5-hydroxytryptamine (5HT) in normal brain function, this deficiency might be a factor in the mental defect (Pare, Sandler and Stacey, 1957). In the work described below, the previous findings are extended and the relationship of the 5-hydro...

Diffusion tensor imaging (DTI) has shown poorer microstructural white matter integrity in children with phenylketonuria (PKU), specifically decreases in mean diffusivity (MD), in comparison with healthy children. However, little research has been conducted to investigate the relationship between age and white matter integrity in this population. The present study examined group differences in t...

From 1964 to 1968, despite a general policy of routine neonatal screening for phenylketonuria that was usually carried out using the Phenistix nappy test, half to one-quarter of all cases reported to the register had been missed in the screening programme and had not been detected before the age of 4 months. In about two-thirds of the "missed" cases no screening test had been carried out, and i...

Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida; and University of Massachusetts Boston, Boston, Massachusetts; Museum of Comparative Zoology, Harvard University, Cambridge, Massachusetts. Address correspondence to Jeffrey P. Brosco, MD, PhD, Department of Pediatrics, University of Miami Miller School of Medicine, PO Box 016820, Miami, FL 33101. E-mail: j...

Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing the devastating brain damage associated with untreated PKU. The management of PKU is inconsistent: there are few national guidelines, and these tend to be incomplete and implemented sporad...

A simple paper chromatographic method was found to be effective for the study of phenylketonuria and tyrosyluria. It proved to be much more reliable than conventional tests for the detection of abnormal amounts of ketoacids in urine and was suitable and convenient for following the effects of dietary variations on the excretion of these compounds. Information obtained about ketones other than t...