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Impaired plasmalogen metabolism in infantile Refsum's disease

✍ Scribed by B. T. Poll-Thé; H. Ogier; J. M. Saudubray; R. B. H. Schutgens; R. J. A. Wanders; H. Bosch; G. Schrakamp

Book ID
104775316
Publisher
Springer
Year
1986
Tongue
English
Weight
211 KB
Volume
144
Category
Article
ISSN
0340-6997

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Infantile refsum disease in four Amish s
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✍ Bader, Patricia I.; Dougherty, Susannah; Cangany, Nancy; Raymond, Gerald; Jackso 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this si