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Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay

โœ Scribed by P. T. Clayton; S. Eckhardt; J. Wilson; C. M. Hall; Y. Yousuf; R. J. A. Wanders; R. B. H. Schutgens

Publisher
Springer
Year
1994
Tongue
English
Weight
954 KB
Volume
17
Category
Article
ISSN
0141-8955

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๐Ÿ“œ SIMILAR VOLUMES

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).