Results 121 to 130 of about 4,802 (174)

Pharmacokinetic Cross-Over Study of Pharmacy-Compounded Chenodeoxycholic Acid Capsules Compared to Authorized Capsules. [PDF]

Pharmaceutics
Bouwhuis N, Jacobs BAW, Majait S, Vaz FM, Hollak CEM, Swart EL, Kemper EM.   +6 more
europepmc   +1 more source

Lipidomic Signatures in Feline Disease: A PRISMA-Guided Systematic Review. [PDF]

Metabolites
Fontes AC, Silva CS, Matos AC, Dias IR, Peixoto F, Oliveira MM, Domingues MR, Viegas CA.   +7 more
europepmc   +1 more source

On xanthomatosis lesion.(6).Treatment of xanthomatosis.

The Nishinihon Journal of Dermatology, 1991
openaire   +1 more source

Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews. [PDF]

Mol Genet Metab
Hanson J, Bonnen PE.
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

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Cerebrotendinous Xanthomatosis

Neurologic Clinics, 1989
Cerebrotendinous xanthomatosis is a rare familial lipid storage that is caused by a defect in bile acid synthesis. As a result, large amounts of cholestanol, the 5 alpha-dihydro derivative of cholesterol, accumulate in virtually every tissue, with extra large deposits in the nervous system, xanthomas, and bile.
V M, Berginer, G, Salen, S, Shefer
openaire   +2 more sources

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 1994
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease.
E, Leitersdorf, V, Meiner
openaire   +2 more sources

Cerebrotendinous xanthomatosis

The Indian Journal of Pediatrics, 2010
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
Mahesh, Kamate, Vivek, Chetal, Virupaxi, Hattiholi   +2 more
openaire   +3 more sources