Results 131 to 140 of about 2,254 (206)

Heterozygous CYP27A1 gene mutation presenting with Achilles tendon xanthoma: a case report. [PDF]

J Med Case Rep
Oyama Y, Okawa K, Miyagi T, Sakai T, Otagiri K, Kitabayashi H.   +5 more
europepmc   +1 more source

Diagnostic Fragmentations of Animal and Fungal Sterols/Stanols Obtained by APCI-Tandem Mass Spectrometry: A Route Towards Unknown Free Sterol Identification. [PDF]

Metabolites
Cinquepalmi V, Losito I, Castellaneta A, Calvano CD, Cataldi TRI.   +4 more
europepmc   +1 more source

An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis. [PDF]

Reports (MDPI)
Levkova M, Hachmeriyan M, Grudkova M, Tsalta-Mladenov M, Kaprelyan A.   +4 more
europepmc   +1 more source

Role of Cholestanol on the Cell Function.

Nippon Eiyo Shokuryo Gakkaishi, 1997
openaire   +2 more sources

Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition. [PDF]

Eur J Neurol
O'Keefe E, Kiernan M, Huynh W.
europepmc   +1 more source

Inhibitory Effect of Fucoidan Analogs on Highly Metastatic Gastric Cancer Cells via Galectin-4 Inhibition. [PDF]

Int J Mol Sci
Ji S, Aswathy M, Kuboki Y, Takada Y, Toshima K, Takahashi D, Ideo H.   +6 more
europepmc   +1 more source

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia. [PDF]

Mol Genet Metab Rep
Alsaleem BM, Ahmed AB, Alruwaithi MM, Alamery TY, Alrajhi NN.   +4 more
europepmc   +1 more source

Development of an improved and greener HPLC-DAD method for the determination of fecal sterols in sediment and water samples using ultrasonic-assisted derivatization with benzoyl isocyanate. [PDF]

RSC Adv
Effting LM, Teixeira Tarley CR.
europepmc   +1 more source

Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention. [PDF]

Brain Sci
Camelo-Filho AE, Lima PLGSB, Cavalcante FLHB, Miyajima OR, Santos CF, da Rosa RF, Pessoa ALS, Braga-Neto P, Nóbrega PR.   +8 more
europepmc   +1 more source

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source