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cholestanol/ataxia
A hivatkozás a vágólapra kerül
Oldal 1 tól től 37 eredmények
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues. Chenodeoxycholic Acid (CDCA) is the standard medical therapy, resulting in
[Autosomal recessive cerebellar ataxias].
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs,
Cholestanol induces apoptosis of cerebellar neuronal cells.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, cerebellar ataxia, xanthoma, and cataract. We hypothesized that cholestanol in serum of CTX patients might induce neuronal cell death in the cerebellum and eventually lead to cerebellar
Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
BACKGROUND
Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies,
A Preventable Ataxia: Cerebrotendinous Xanthomatosis.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in
A case of cerebrotendinous xanthomatosis: effects of ursodeoxycholic acid administration on serum bile acids and cholestanol.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis (CTX) is a rare familiar disease characterized by tendon xanthomas, cataracts, cerebellar ataxia, dementia and an elevated serum cholestanol level. In this paper, a 50-year-old man with typical signs and symptoms of CTX is described. Serum cholestanol and chelesterol
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. The clinical materials of 4 Chinese CTX
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by mutations in the cytochrome P450(27) (CYP27) gene. This disease is characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues. Accumulation in the central nervous system leads to
Bilateral Achilles tendon enlargement.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis is a rare, autosomal-recessive, lipid-storage disease with accumulation of cholestanol in most tissues, particularly within the Achilles tendons. It has been characterized both clinically and biochemically, and recently from the molecular biological aspect as well.
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
UNASSIGNED
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in
Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
A 39 year old patient with cerebellar signs, juvenile cataracts, and dull normal intelligence had cerebrotendinous xanthomatosis without tendon xanthomas, diagnosed previously as Marinesco-Sjoegren syndrome. Cerebrotendinous xanthomatosis was proved by a greatly increased excretion of bile alcohols
Cerebrotendinous xanthomatosis.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder affecting the biosynthetic pathway of bile acids, leading to increased cholestanol formation and its accumulation in various tissues. Patients can present with tendon xanthomas, gait abnormalities, osteoporosis with
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma,
Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report three CTX siblings that shared a novel mutation of the CYP27A1 gene. These siblings presented with elevated cholestanol levels and typical
[Cerebrotendinous xanthomatosis, a treatable metabolic disorder].
Csak regisztrált felhasználók fordíthatnak cikkeket
Belépés Regisztrálás
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis which can be clinically diagnosed and specifically treated. It is an underdiagnosed disorder worldwide.Here,we describe two women who were diagnosed with CTX during their forties after symptoms had
A legteljesebb gyógynövény-adatbázis, amelyet a tudomány támogat
- Működik 55 nyelven
- A tudomány által támogatott gyógynövényes kúrák
- Gyógynövények felismerése kép alapján
- Interaktív GPS térkép - jelölje meg a gyógynövényeket a helyszínen (hamarosan)
- Olvassa el a keresésével kapcsolatos tudományos publikációkat
- Keresse meg a gyógynövényeket hatásuk szerint
- Szervezze meg érdeklődését, és naprakész legyen a hírkutatással, a klinikai vizsgálatokkal és a szabadalmakkal
Írjon be egy tünetet vagy betegséget, és olvassa el azokat a gyógynövényeket, amelyek segíthetnek, beírhat egy gyógynövényt, és megtekintheti azokat a betegségeket és tüneteket, amelyek ellen használják.
* Minden információ publikált tudományos kutatáson alapul
