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Infantile achalasia: Inherited as an autosomal recessive disorder

✍ Scribed by C. Ross Westley; John J. Herbest; Stanford Goldman; Wilmer C. Wiser


Book ID
118538697
Publisher
Elsevier Science
Year
1975
Tongue
English
Weight
877 KB
Volume
87
Category
Article
ISSN
1097-6833

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Infantile Refsum disease: an inherited p
✍ B. T. Poll-The; J. M. Saudubray; H. A. M. Ogier; M. OdiΓ¨vre; J. M. Scotto; L. Mo πŸ“‚ Article πŸ“… 1987 πŸ› Springer 🌐 English βš– 943 KB

Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present.