The method contributes to the diagnosis of some rare genetic diseases like cerebrotendinous xanthomatosis
, Niemann-Pick type C disease, and Smith-LemliOpitz-Syndrome in a single run.
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis
with a review of the mutations in the CYP27A1 gene.
Key words: trachea, xanthfoma, xanthomatosis
, xanthogranuloma, resection, anastomosis, avian, red-tailed hawk, Buteo jamaicensis
Seven cases of xanthogranulomatous salpingitis, 3 cases of xanthogranulomatous oophoritis, and 4 cases of xanthogranulomatous salpingitis and oophoritis have been reported to date,[2,12,13,16-22] some under other diagnoses, such as xanthomatous salpingiosis, tubal xanthomatosis
, xanthogranuloma of the ovary, and pelvic inflammatory pseudotumor.
org 1,2,3,4,5,6, 7,8; Spanish materials, provides direct services through 158 affiliate programs CEREBROOCULORENAL DYSTROPHY See: Lowe Syndrome CEREBROSIDE LIPIDOSIS See: Gaucher Disease CEREBROTENDINOUS See: Xanthomatosis
Leukodystrophy; Tay-Sachs Disease CHAGAS' DISEASE See: Autoimmune Disorders CHALASODERMIA See: Connective Tissue Disorders CHANARIN-DORFMAN SYNDROME See: Ichthyosis CHANDS ASSOCIATION See: Ectodermal Dysplasias CHARCOT-MARIE-TOOTH DISEASE See also: Ataxia; Muscular Dystrophy; Myelin Disorders Charcot-Marie-Tooth Association 601 Upland Ave.
A scientist at Oregon Health & Science University was looking for a new way to measure low concentrations of specific ketosterols due to the sensitivity and low sample volume requirements necessary for her research into biomarker discovery for Cerebrotendinous Xanthomatosis