Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2012

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Pseudo-Zellweger-Syndrom

Cited by user Zieger M on 07 Feb 2018

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