D-bifunctional protein deficiency associated with drug resistant infantile spasms

Author:

Buoni Sabrina,Zannolli Raffaella,Waterham Hans,Wanders Ronald,Fois Alberto

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference7 articles.

1. Peroxisomes, lipid metabolism, and peroxisomal disorders;Wanders;Mol Genet Metab,2004

2. Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group;Paton;Cell Biochem Biophys,2000

3. Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov./Omim/ Center for Medical Genetics, Johns Hopkins University, Baltimore, MD, and the national Centre for Biotechnology Information, National Library of Medicine, Bethesda, MD: MIM #∗601860 17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4.

4. Molecular basis of D-bifunctional protein deficiency;Moller;Mol Cell Endocrinol,2001

5. Hypsarrhythmia: variations on the teme;Hrachovy;Epilepsia,1984

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