Natural history of neurological abnormalities in cerebrotendinous xanthomatosis
JC Wong, K Walsh, D Hayden, FS Eichler - Journal of Inherited Metabolic …, 2018 - Springer
Objectives Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative
disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is …
disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is …
Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey
H Atilla, T Coskun, B Elibol, S Kadayifcilar… - Journal of American …, 2021 - Elsevier
Purpose To determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients
with idiopathic bilateral juvenile cataract in Turkey. Methods In this multicenter …
with idiopathic bilateral juvenile cataract in Turkey. Methods In this multicenter …
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?
E Everest, B Gulec, U Uygunoglu - The Cerebellum, 2024 - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is a dominantly inherited ataxia primarily
characterised by progressive cerebellar syndrome, which is developed due to the expansion …
characterised by progressive cerebellar syndrome, which is developed due to the expansion …
Cerebrotendinous xanthomatosis
AT Waldman, MC Patterson - 2020 - uptodate.com
Cerebrotendinous xanthomatosis (CTX; MIM 213700) is an autosomal recessive lipid
storage disease caused by disruption of bile acid synthesis that was first described in 1937 …
storage disease caused by disruption of bile acid synthesis that was first described in 1937 …
Inborn Errors of Metabolism
A Burlina, A Celato, AP Burlina - Prognosis of Neurological Diseases, 2015 - Springer
Urea cycle disorders: mortality at 10 years is 60%, if neonatal presentation is excluded.
Organic acidurias/acidemias: most symptomatic patients carry severe handicaps …
Organic acidurias/acidemias: most symptomatic patients carry severe handicaps …
[PDF][PDF] BASES GENÉTICAS E FISIOPATOLÓGICAS DA XANTOMATOSE CEREBROTENDINOSA: UMA REVISÃO DE LITERATURA
ACSS Junior - ANAIS DO II COGEMPI E II COLAGEMPI, 2019; 10-84 - acervomais.com.br
RESUMO INTRODUÇÃO: A Xantomatose Cerebrotendinosa (XTC) caracteriza-se como
uma doença metabólica autossômica recessiva com mutação no gene CYP27A1 …
uma doença metabólica autossômica recessiva com mutação no gene CYP27A1 …
The Effect of Piracetam on Friedreich Ataxia
RESULTS There were 3 patients with adult-onset FRDA and history of piracetam infusion.
Patient 1 was a 34-year-old woman. Her age at the diagnosis was 27 years. The reported …
Patient 1 was a 34-year-old woman. Her age at the diagnosis was 27 years. The reported …
Церебросухожильный ксантоматоз
ГЕ Руденская, ЕЮ Захарова - Анналы клинической и …, 2015 - cyberleninka.ru
Церебросухожильный ксантоматоз редкое аутосомно-рецессивное нарушение
обмена холестерина и желчных кислот, связанное с геном стерол-27-гидроксилазы …
обмена холестерина и желчных кислот, связанное с геном стерол-27-гидроксилазы …
Сerebrotendinous xanthomatosis
GE Rudenskaya, EY Zakharova - Annals of Clinical and …, 2015 - annaly-nevrologii.com
Церебросухожильный ксантоматоз–редкое аутосомно-рецессивное нарушение
обмена холестерина и желчных кислот, связанное с геном стерол-27-гидроксилазы …
обмена холестерина и желчных кислот, связанное с геном стерол-27-гидроксилазы …