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» Aipgmee 08 paper (mcqs) with explainations
IN REFSUM'S DISEASE---- EmptyWed Jan 16, 2008 12:01 am by Admin

» Official website address
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» BIOSTATS:::"SAMPLING ERROR"--
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» subjectwise or year wise?
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» WHICH VIRUS IS TRANSPORTED BY NEUTROPHILS---
IN REFSUM'S DISEASE---- EmptyFri Dec 21, 2007 12:57 pm by nomoredoc

» IN SUSPECTED URETERIC INJURY AT PELVIC SURGERY
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» WHAT IS THE PROBABLE DIAGNOSIS?
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» IN T/T OF PSORIASIS---
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» KARYOTYPING IS DONE WITH--
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IN REFSUM'S DISEASE---- Empty IN REFSUM'S DISEASE----

Post by nomoredoc on Fri Dec 07, 2007 12:21 pm

Question which is not included as a component???

1)mental retardation
2)retinitis pigmentosa
3)cerebellar ataxia
4)polyneuritis

confused [doubt is b/w (1) & (2)!!!]
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IN REFSUM'S DISEASE---- Empty Re: IN REFSUM'S DISEASE----

Post by sonia on Sun Dec 09, 2007 2:44 am

refsum disease is charaCterised by progressive sensorimotor demyelinating polyneuropathy,cerebellar ataxia and retinitis pigmentosa there is no mr defect is in oxidation of phytanic acids due to deficiency of phytanic acid oxidase in peroxisomes .Additiional features cardiomyopathy icthyosis and cataracts.ref page 2513 harrison 16th edition
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