Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.
Besley
G T
GT
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
Walter
J H
JH
Lewis
M A
MA
Chard
C R
CR
Addison
G M
GM
D000138:Acidosis / Q000097:blood / Q000201:enzymology / Q000652:urine; D017809:Fatal Outcome; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000097:blood / Q000378:metabolism* / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology*; D008099:Liver / Q000201:enzymology; D010641:Phenotype