Biomedical subjects

Deborah Marsden

Publications and source records attributed to Deborah Marsden.

2 recordsLinked to original sources

PubMed2003

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects.

Amino Acids, Basic↗

PubMed2003

Expanded newborn screening.

The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our knowledge of the frequency and phenotypic variability for each of them.

False Negative Reactions↗