Zobrazeno 1 - 10
of 1 773
pro vyhledávání: '"Cerebrotendinous Xanthomatosis"'
Autor:
Şenel, Gülçin Benbir1, Abbaszade, Hikmet1 hikmet9224@gmail.com, Tekgül, Şeyma2, Başak, Nazlı2, Apaydın, Hülya1
Publikováno v:
Neuropsychiatric Investigation. Dec2022, Vol. 60 Issue 4, p106-109. 4p.
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen in classical CTX.
Externí odkaz:
https://doaj.org/article/ba7bc5620dfe4e5baf4d78f3d8e335e0
Autor:
Dikbas, Oguz1 sutopal2005@hotmail.com, Torun, Deniz2, Ilgezdi, Irem3, Eyuboglu, Ilker4, Unlu, Burcu5
Publikováno v:
Annals of Medical of Research. Aug2020, Vol. 27 Issue 8, p2200-2203. 4p.
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/f7e7e6a2c80f472fb0c33f2eb87117a3
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundCerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease associated with lipid metabolic disorders. Because of its clinical diversity and rarity, the diagnosis is often unclear. However, there is still a lack of reports on bib
Externí odkaz:
https://doaj.org/article/216f298bd07d46b2bd86254039fc6eab
Autor:
Karolina Ejsmont-Sowała, Tomasz Książek, Katarzyna Maciorowska-Rosłan, Joanna Rosłan, Agata Czarnowska, Anna Jakubiuk-Tomaszuk, Joanna Tarasiuk, Katarzyna Kapica-Topczewska, Alina Kułakowska
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Xanthomatosis is a genetic disease inherited in an autosomal recessive manner. The specific phenotypic features are associated with patient’s genetic profile. The result of the mutation is disorder of cholesterol synthesis and the accumulation of i
Externí odkaz:
https://doaj.org/article/56ebd34aebf84fe7bc0db66ad01f52c8
Autor:
Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35. Although the symptoms begin
Externí odkaz:
https://doaj.org/article/bb8e54f0f32046f58e6070ad1867594e
Autor:
Nambirajan, A.1, Sashidharan, A.1, Garg, A.2, Dash, D.3, Bhatia, R.3, Sharma, M. C.1, Mathur, S. R.1 mathuraiims@gmail.com
Publikováno v:
Cytopathology. Oct2018, Vol. 29 Issue 5, p482-485. 4p.
Publikováno v:
Clinical & Translational Neuroscience; Dec2023, Vol. 7 Issue 4, p1-15, 15p
Autor:
Jung Yoon Yoon1, Min-Wook Kim1 minukkim@nate.com, Hyun Jung Do1, Dae-Hyun Jang1, Hee Won Lee1
Publikováno v:
Annals of Rehabilitation Medicine. 2017, Vol. 41 Issue 2, p313-317. 5p.