Results 131 to 140 of about 6,190 (205)

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX. [PDF]

Orphanet J Rare Dis
Del Monte MA, Hanson J, Bonnen PE.
europepmc   +1 more source

Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns. [PDF]

NPJ Genom Med
Huang Y, Gao Y, Duan Z, Jia X, Sun Y, Liu C, Huang H, Liu J, Pan S, Jin X, Fang M.   +10 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

Device-Aided Treatment of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

Mov Disord Clin Pract
Salamon A, Szpisjak L, Klivényi P, Zádori D.   +3 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

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

The Nishinihon Journal of Dermatology, 1991
openaire   +2 more sources

Xanthomatosis Coli Associated With Nontuberculous Mycobacterial Disease. [PDF]

Gastro Hep Adv
Masuda N, Yamazaki K, Kushima R.
europepmc   +1 more source

Bilateral Achilles Tendon Xanthomas in a 17-Year-Old Female: A Clinicoradiological Case Report. [PDF]

Clin Med Insights Case Rep
Kumar A, Sachdeva R, Verma A.
europepmc   +1 more source

Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity. [PDF]

Epilepsy Behav Rep
Mills Z, Houston JT, Thomas A, Shoenmeyer K.   +3 more
europepmc   +1 more source