Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria.
Randak
C
C
Department of Pediatrics, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany.
Roschinger
W
W
Rolinski
B
B
Hadorn
H B
HB
Applegarth
D A
DA
Roscher
A A
AA
D002648:Child; D003241:Consanguinity; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*; D007223:Infant; D007231:Infant, Newborn; D002955:Leucovorin / Q000627:therapeutic use; D008297:Male; D008764:Methylmalonic Acid / Q000652:urine*; D009679:Nuclear Family
D006710:Homocysteine; D008764:Methylmalonic Acid; D002955:Leucovorin