Results 141 to 150 of about 6,190 (205)

Familial Hypercholesterolemia. [PDF]

Methodist Debakey Cardiovasc J
Iatan I, Genest J.
europepmc   +1 more source

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis. [PDF]

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

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

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

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment. [PDF]

Clin Genet
Sultan R, Villa-Lopez M, Hung C, McCabe M, Suchowersky O, Urlacher J, Mercimek-Andrews S.   +6 more
europepmc   +1 more source

A rare case of xanthoma regression with thyroxine replacement in a young girl with overt hypothyroidism. [PDF]

J Postgrad Med
Agrawal K, Kumar S, Singh SK, Khanuja M.
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

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 more
europepmc   +1 more source

On an xanthomatosis lesion.(5).The normolipidemic xanthomatosis.

The Nishinihon Journal of Dermatology, 1991
openaire   +1 more source