Results 61 to 70 of about 4,690 (123)

Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant. [PDF]

BMC Ophthalmol
Ceylan A, Güler S, Aydin FO, Akbas YB, Yildiz BK, Yildirim Y.   +5 more
europepmc   +1 more source

Effect of vitamin 25 (OH) D on toll-like receptor expression and inflammatory mediators in monocytes versus the uremic environment

, 2017
A doença renal crônica (DCR) é caracterizada por um estado inflamatório causado pela presença de toxinas urêmicas no plasma dos pacientes. Este estado inflamatório está associado com um elevado risco de doenças cardiovasculares e infecções.
Brito, Rodrigo Barbosa de Oliveira
core  

Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study. [PDF]

Cerebellum
Camelo-Filho AE, Sá Barreto Lima PLG, da Rosa RF, Miyajima OR, Marcucci MHB, de Oliveira Scott SS, de Arruda Furtado LET, Frota AF, Soares MVR, Macedo DS, Pessoa A, Nóbrega PR, Braga-Neto P.   +12 more
europepmc   +1 more source

Machine learning-based detoxification enzymes-related genes prognosis model in breast cancer: immune landscape and clinical significance. [PDF]

Discov Oncol
Zhang J, Zhan W, Hu H, Zhu H, Hao B, Wang S, Li Z, Zhang Z, Zhang T.   +8 more
europepmc   +1 more source

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]

Health Sci Rep
Jalal L, Basaria AAA, Yokolo H.
europepmc   +1 more source

Utilization of screening for cerebrotendinous xanthomatosis in adult patients with idiopathic ataxia. [PDF]

Front Neurol
Sipma R, Dean M, DeBarber A, Yacoubian T.   +3 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings. [PDF]

Radiol Case Rep
Khan HG, Raj G, Yadav E, Gupta K, Kulshreshtha D, Ratna, Panda A, Kumar Y.   +7 more
europepmc   +1 more source

Targeted sequencing provides genetic insights into familial cardiovascular disease among young adults in a high consanguinity population. [PDF]

PLoS One
Arif N, Khan I, Khan TA, Ahmad S, Nauman F, Ahmad G, Ijaz M, Ahmad B, Hassan SM, Afaq S, Haq ZU.   +10 more
europepmc   +1 more source

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

Genetics of Cerebrotendinous Xanthomatosis. [PDF]

Mol Diagn Ther
Hanson J, Bonnen PE.
europepmc   +1 more source