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ATYPICAL PHENYLKETONURIA CAUSED BY 7, 8-DIHYDROBIOPTERIN SYNTHETASE DEFICIENCY

✍ Scribed by NIEDERWIESER, A


Book ID
121914519
Publisher
The Lancet
Year
1979
Tongue
English
Weight
373 KB
Volume
313
Category
Article
ISSN
0140-6736

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CHILD (congenital hemidysplasia, ichthyosis, and limb defects) syndrome is a rare, usually sporadic disorder associated with unilateral distribution of ichthyosiform skin lesions, limb defects, punctate calcifications of cartilaginous structures, and visceral anomalies. CHILD syndrome shares some ma