Maple Syrup Urine Disease: Coenzyme function and prenatal monitoring

A pregnancy at high risk for “cofactor resistant” Maple Syrup Urine Disease (MSUD) was monitored by quantitating valine, leucine, and isoleucine concentrations in maternal 24-hr urines, maternal plasma, and amniotic fluid. The fetal genotype was determined by assaying the conversion of radiolabeled...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Metabolism, clinical and experimental clinical and experimental, 1974-06, Vol.23 (6), p.569-579
Hauptverfasser:	Elsas, Louis J., Priest, Jean H., Wheeler, Frances B., Danner, Dean J., Pask, Beatrice A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acids - metabolism Amniotic Fluid - analysis Amniotic Fluid - cytology Carbon Dioxide - metabolism Carbon Radioisotopes Cells, Cultured Coenzyme A - physiology Decarboxylation Fasting Female Fibroblasts Genotype Heterozygote Humans Infant, Newborn Isoleucine - analysis Isoleucine - blood Isoleucine - urine Leucine - analysis Leucine - blood Leucine - urine Maple Syrup Urine Disease - diagnosis Maple Syrup Urine Disease - enzymology Maternal-Fetal Exchange Pregnancy Prenatal Diagnosis Radioimmunoassay Valine - analysis Valine - blood Valine - urine
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!