Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome
- 1 April 1989
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 12 (2) , 358-360
- https://doi.org/10.1007/bf03335422
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Peroxisomal Enzyme Deficiency in the Conradi–Hunerman Form of Chondrodysplasia PunctataNew England Journal of Medicine, 1987
- Dihydroxyacetone phosphate acyltransferase deficiency in peroxisomal disordersJournal of Inherited Metabolic Disease, 1987
- Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography — mass spectrometryEuropean Journal of Pediatrics, 1987
- Peroxisomal disorders: A newly recognised group of genetic diseasesEuropean Journal of Pediatrics, 1986
- Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctataClinical Genetics, 1981