Results 131 to 140 of about 7,425 (220)

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]

Mol Syndromol
Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T.   +5 more
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: 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

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

Cefotaxime desensitization [PDF]

, 1993
Bogner, Johannes R., Hehlmann, R., Hofmeister, F., Papakonstantino, G.   +3 more
core   +1 more source

Xanthomatosis Coli Associated With Nontuberculous Mycobacterial Disease. [PDF]

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

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

Neurol Int
Hanson J, Bonnen PE.
europepmc   +1 more source

The Impact of Lipaemia on the Laboratory Results in a Patient With Diabetes. [PDF]

Cureus
van Staden QA, Steyn M, van Marle AC, Joubert J.   +3 more
europepmc   +1 more source

Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis. [PDF]

Front Neurol
Guoliang Y, Zhaoxia W, Lin Z, Xuan C, Xiaodong Z, Xiaolian X, Yangli S, Tianli Z, Yanping Z, Jiangping W, Qing L.   +10 more
europepmc   +1 more source