Wamelink, M M C

4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency. [electronic resource] - Molecular genetics and metabolism Feb 2011 - 216-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2010.10.001 doi


4-Butyrolactone--urine
Amino Acid Metabolism, Inborn Errors--diagnosis
Catheters--standards
Developmental Disabilities
Female
Humans
Hydroxybutyrates--blood
Infant
Infant, Newborn
Maple Syrup Urine Disease--diagnosis
Succinate-Semialdehyde Dehydrogenase--deficiency