Results 181 to 190 of about 3,665 (213)

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

, 1991
James J. Cali, C L Hsieh, Uta Francke, David W. Russell   +3 more
openalex   +1 more source

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report. [PDF]

J Med Case Rep
Min JH, Kim YS, Son MJ, Joo IS.
europepmc   +1 more source

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis. [PDF]

JCEM Case Rep
Guay SP, Paquette M, Poulin V, Levtova A, Baass A, Bernard S.   +5 more
europepmc   +1 more source

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK.   +5 more
europepmc   +1 more source

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene. [PDF]

Orphanet J Rare Dis
Köroğlu M, Karakaplan M, Gündüz E, Kesriklioğlu B, Ergen E, Aslantürk O, Özdemir ZM.   +6 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: some clinical, radiological, genetic and pathophysiological aspects

, 2000
Aad Verrips
openalex   +1 more source

Autosomal recessive ataxias: 20 types, and counting [PDF]

Anttonen A-K, Arita M, Barbot C, Barkhof F, Berginer VM, Berriot-Varoqueaux N, Bomar JM, Bouchard J-P, Cavalier L, Chun HH, Cooper JM, David Schlesinger, Delia D, Di Leo E, Duquette A, El-Khamisy SF, Emília Katiane Embiruçu, Farr AK, Federico A, Fernando Kok, Fernet M, Ferrarini M, Fogel BL, Gallus GN, Glass HC, Gonçalves S, Gueven N, Gücüyener K, Hayakawa Y, Hebert MD, Jansen GA, Koskinen T, Lagier-Tourenne C, Le Ber I, Le Ber I, Lönnqvist T, Marcília Lima Martyn, Mariotti C, Marzouki N, Milone M, Montero R, Musumeci O, Nikali K, Ouyang Y, Palau F, Pandolfo M, Parisi MA, Perlman S, Quinzii CM, Rötig A, Senderek J, Takashima H, Taylor AMR, Taylor AMR, Tazir M, Türkmen S, Valente EM, Van Goethem G, Wanders RJA, Wierzbicki AS, Winterhun S, Zaki MS, Zamel R   +62 more
core   +1 more source

Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)

William J. Griffiths, Eylan Yutuc, Mohsen Ali Asgari, Yuqin Wang   +3 more
openalex   +1 more source

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Cerebrotendinous Xanthomatosis

The Indian Journal of Pediatrics, 2010
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases.
T. Siman-Tov, N. Gadoth
openaire   +3 more sources