Genetic testing for Refsum disease
نویسندگان
چکیده
منابع مشابه
Infantile Refsum disease.
Disorders attributable to peroxisomal dysfunction are well recognized on the basis of their clinical and biochemical characteristics. These observations have resulted in a preliminary classification that recognizes two major groups of disorders, both of which are genetically determined. Group 1 consists of the generalized peroxisomal disorders that frequently cause signs and symptoms in the new...
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Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because ...
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and moulding technicians as well as surgeons. Although it is reasonably straightforward to simulate anastomosis of hollow viscera, a much greater challenge faces design teams in creating simulated tissues for dissection and resection. The structure of surgical training in Britain is undergoing considerable change at present. Entry to a surgical career in the future seems likely to be preceded b...
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The following protocol contains medical necessity criteria that apply for this service. The criteria are also applicable to services provided in the local Medicare Advantage operating area for those members, unless separate Medicare Advantage criteria are indicated. If the criteria are not met, reimbursement will be denied and the patient cannot be billed. Please note that payment for covered s...
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ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.28