cerebrotendinous

cerebrotendinous

 [ser″ĕ-bro-ten´dĭ-nus]
pertaining to the cerebrum and the tendons.
References in periodicals archive ?
Reimbursement of Chenodal has remained robust, and initial efforts to find undiagnosed cerebrotendinous xanthomatosis (CTX) patients are promising," said Martin Shkreli, Founder and CEO of Retrophin.
For example, in cerebrotendinous xanthomatosis no or almost no 27-hydroxycholesterol is formed owing to a defect of the sterol 27-hydroxylase gene (34).
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews of Moroccan origin.
Similarly severe physical signs but modest elevations in LDL are seen in cerebrotendinous xanthomatosis.
The options presented are xanthelasma, cerebrotendinous xanthomatosis and arcus cornealis.
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 disease.
High-throughput urine screening for SmithLemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry.
The discovery came in a study of Cerebrotendinous Xanthomatosis, or CTX, a rare and often fatal disorder caused by excessive cholesterol metabolites.
We show the clinical usefulness of the technique by successfully applying it to 4 inherited disorders in lipid metabolism: SLOS, cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Refsum disease.
org 1,2,3,4,5,6,7,6 CEREBROOCULORENAL DYSTROPHY See: Lowe Syndrome CEREBROSIDE LIPIDOSIS See: Gaucher Disease CEREBROTENDINOUS See: 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; Dejerine-Landouzy Deafness Research Foundation 1225 1 St.
Identification of new mutations in sterol 27hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
org 1,2,3,4,5,6,7,6 CEREBROOCULORENAL DYSTROPHY See: Lowe Syndrome CEREBROSIDE LIPIDOSIS See: Gaucher Disease CEREBROTENDINOUS See: 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.