Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome.
Goodman
B K
BK
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine. Baltimore, Maryland 21287-4922, USA.
Rutberg
J
J
Lin
W W
WW
Pulver
A E
AE
Thomas
G H
GH
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011392:Proline / Q000097:blood*; D011394:Proline Oxidase / Q000235:genetics*; D013577:Syndrome
D015415:Biomarkers; D011392:Proline; D011394:Proline Oxidase