5‐Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia
- 1 January 1995
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 18 (1) , 83-84
- https://doi.org/10.1007/bf00711382
Abstract
No abstract availableThis publication has 3 references indexed in Scilit:
- 5‐Oxoprolinuria associated with 5‐oxoprolinase deficiency; further evidence that this is a benign disorderJournal of Inherited Metabolic Disease, 1993
- Pyroglutamic aciduria (5‐Oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activityJournal of Inherited Metabolic Disease, 1981
- 5‐OXOPROLINURIA DUE TO HEREDITARY 5‐OXOPROLINASE DEFICIENCY IN TWO BROTHERS–A NEW INBORN ERROR OF THE γ‐GLUTAMYL CYCLEActa Paediatrica, 1981