Results 71 to 80 of about 1,415 (157)

A Case of Familial Hypercholesterolemia and Cerebrotendinous Xanthomatosis With Multiple Giant Xanthomas

Annals of Internal Medicine: Clinical Cases
A 56-year-old woman was referred to our hospital for evaluation of multiple infectious giant xanthomas on her upper and lower limbs. She was initially diagnosed with heterozygous familial hypercholesterolemia with a proprotein convertase subtilisin/kexin
Tatsuya Maruhashi, Shogo Matsui, Shinji Kishimoto, Masato Kajikawa, Yukihito Higashi   +4 more
doaj   +1 more source

Cerebrotendinous xanthomatosis [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
G, Castelnovo, L, Jomir, S, Bouly
openaire   +2 more sources

Cerebrotendinous Xanthomatosis

Neurologia (Barcelona, Spain), 2008
FEDERICO, ANTONIO, DOTTI, MARIA, GALLUS, GIAN NICOLA   +2 more
  +6 more sources

Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult Cerebrotendinous Xanthomatosis

Haseki Tıp Bülteni
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme.
Eser Bulus, Sahin Avci, F. Feriha Ozer
doaj   +1 more source

Screening for cerebrotendinous xanthomatosis [PDF]

Journal of Inherited Metabolic Disease, 2014
James J, Pitt, Heidi, Peters
openaire   +2 more sources

Cerebrotendinous xanthomatosis [PDF]

, 2020
Gerald Salen, Shailendra B. Patel
openaire   +2 more sources

Cerebrotendinous Xanthomatosis [PDF]

BMJ, 1972
A S, Truswell, P J, Pfister
openaire   +4 more sources

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

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches. [PDF]

Neurogenetics
Ďurina P, Bandura A, Chandoga J, Juhosová M, Repiský M, Jungová P, Roháľová J, Jarásková D, Pohorelská V, Dallemule S, Mattošová S, Brennerová K, Okaľová K, Bohuniczky I, Böhmer D.   +14 more
europepmc   +1 more source

Cerebrotendinous xanthomatosis: A report of 3 cases

JAAD Case Reports, 2020
Katharine Saussy, MD, Neelesh Jain, BS, Andrea Murina, MD   +2 more
doaj   +1 more source