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Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

โœ Scribed by R. J. A. Wanders; H. Schumacher; J. Heikoop; R. B. H. Schutgens; J. M. Tager

Book ID
105574184
Publisher
Springer
Year
1992
Tongue
English
Weight
170 KB
Volume
15
Category
Article
ISSN
0141-8955

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Developmental delay and growth failure c
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency
โœ Elias, Ellen Roy; Mobassaleh, Munir; Hajra, Amiya K.; Moser, Ann B. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 22 KB ๐Ÿ‘ 2 views

We describe a 6 1/2-year-old-girl presenting with a unique phenotype and dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency (1.6% of control activity in cultured fibroblasts), a peroxisomal enzyme deficiency which was reported previously to cause rhizomelic chondroplasia punctata (RCDP).