Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; Cholestanol; Chenodeoxycholic acid; CYP27A1 gene; Cholesterol biosynthesis; Bile acid; Neurologic abnormality; Xanthomas;
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Keywords: زانتانوماتوز Cerebrotendinous; cholestanol; sitostanol; total cholesterol; lathosterol; 7α-hydroxy-4-cholesten-3-one; phytosterolemia; 7α-H-C4; 7α-Hydroxy-4-cholesten-3-one; C4-d7; 7-Hydroxy-4-cholesten-3-one-25,26,26,26,27,27,27-d7; CTX; Cerebrotendinous xanthomatosis; CV; Coeffici
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; Diagnosis; Hereditary spastic paraplegia; HSP; Next-generation sequencing; SPG;
Keywords: زانتانوماتوز Cerebrotendinous; GC-MS; gas chromatography mass spectrometry; LC-MS; liquid chromatography mass spectrometry; CSF; Cerebrospinal fluid; IEM; inborn errors of metabolism; MALDI; matrix-assisted laser desorption ionization; SELDI; Surface-enhanced laser desorption/ionizatio
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; Xanthoma; Cholestanol; CYP27A1; Sterol 27-hydroxylase;
Keywords: زانتانوماتوز Cerebrotendinous; X-ALD; X-linked adrenoleukodystrophy; ADLD; Adult onset autosomal dominant leukodystrophy; AGS; Aicardi-Goutières syndrome; AxD; Alexander disease; CER; Comparative effectiveness research; CT; Computed tomography; CTX; Cerebrotendinous xanthomatosis; G
Keywords: زانتانوماتوز Cerebrotendinous; LD; Leukodystrophies; gLE; Genetic leukoencephalopathy; MR; Magnetic resonance; MRI; Magnetic resonance imaging; GLIA; Global Leukodystrophy Initiative; CNS; Central nervous system; SIMD; Society for Inherited Metabolic Disorders; VWM; Vanishing white mat
Keywords: زانتانوماتوز Cerebrotendinous; ABC; ATP binding cassette; ACAT; Acyl CoA: cholesterol acyltransferase; ACBD1/3; acyl CoA binding domain 1/3; AFG3L2; AFG3-like AAA ATPase 2; AIM/Spα; apoptosis inhibitor expressed by macrophages; ANT; adenine nucleotide transporter; Apo; apolipoprotein;
Keywords: زانتانوماتوز Cerebrotendinous; Oxysterols; Cytochrome P-450; Bile acid synthesis; Cerebrotendinous xanthomatosis; Cholesterol homeostasis; Isotope dilution - mass spectrometry;
Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma
Keywords: زانتانوماتوز Cerebrotendinous; Oxysterol; Hereditary spastic paraplegia type 5; Cerebrotendinous xanthomatosis; Cytochrome P450; Bile acid; Brain;
ReviewDetermination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease
Keywords: زانتانوماتوز Cerebrotendinous; CCl; 4carbon tetrachloride; C-triol; cholestane-3β,5α,6β-triol; CV; coefficient of variation; CTX; cerebrotendinous xanthomatosis; EI; electron impact ionization; GC-MS; gas chromatography-mass spectrometry; HPLC; high performance liquid chromatogr
Charge-tagging liquid chromatography-mass spectrometry methodology targeting oxysterol diastereoisomers
Keywords: زانتانوماتوز Cerebrotendinous; ACOX2; acyl-coenzyme A oxidase 2; AMACR; alphamethylacyl-CoA racemase; CTX; cerebrotendinous xanthomatosis; CYP; cytochrome P450; EADSA; enzyme-assisted derivatisation for steroid analysis; ESI; electrospray ionisation; GC; gas chromatography; GP; Girard
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; Cataract; Cholestanol; Infantile diarrhea; Achilles
Tendon xanthomas: Not always familial hypercholesterolemia
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; CYP27A1 mutation; Tendon xanthoma; Familial hypercholesterolemia; Differential diagnosis; Pathophysiology; Genetics; Case report;
Disease specific therapies in leukodystrophies and leukoencephalopathies
Keywords: زانتانوماتوز Cerebrotendinous; X-ALD; X-linked Adrenoleukodystrophy; AGS; Aicardi-Goutières Syndrome; CSF; cerebrospinal fluid; IFNα; α-interferon; RNA; ribonucleic acid; DNA; deoxyribonucleic acid; SLE; systemic lupus erythematosus; AxD; Alexander disease; GFAP; growth factor ass
Ãtude rétrospective multicentrique de 15 cas adultes de xanthomatose cérébrotendineuse : aspects cliniques et paracliniques typiques et atypiques
Keywords: زانتانوماتوز Cerebrotendinous; Xanthomatose cérébrotendineuse; Leucodystrophie métabolique; Xanthomes; Cataracte; Cholestanol; Acide chénodesoxycholique; Noyaux dentelés; Cerebrotendinous xanthomatosis; Metabolic leukodystrophy; Xanthomas; Cataract; cholestanol; Chenodeoxycholic a
Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma
Keywords: زانتانوماتوز Cerebrotendinous; API; atmospheric pressure ionization; CDCA; chenodeoxycholic acid; CTX; cerebrotendinous xanthomatosis; EADSA; enzyme-assisted derivatization for sterol analysis; DHEA; dehydroepiandrosterone; ESI; electrospray ionization; FT; Fourier transform; FWHM; ful
The Cholesterol Derivative 27-Hydroxycholesterol Reduces Steatohepatitis in Mice
Keywords: زانتانوماتوز Cerebrotendinous; Metabolic Syndrome; Fatty Liver; NAFLD; Mouse Model; 27HC; 27-hydroxycholesterol (25(R)26 hydroxycholesterol); ALT; alanine aminotransferases; COL1A1; collagenase 1A1; CTX; cerebrotendinous xanthomatosis; HFC; high-fat high cholesterol; IL; interleukin; K
Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; Major depression; Chinese; Fluoxetine;
Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous Xanthomatosis; CYP27A1
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome
Keywords: زانتانوماتوز Cerebrotendinous; cerebrotendinous xanthomatosis; spinocerebellar syndrome; treatment; żóÅtakowatoÅÄ mózgowo-ÅciÄgnista; zespóÅ rdzeniowo-móżdżkowy; leczenie;
Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; LDL apheresis; 7α-Hydroxy-4-cholesten-3-one
Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous xanthomatosis; Cholestanol; Chenodeoxycholic acidXantomatosis cerebro-tendinosa; Colestanol; Ácido quenodeoxicólico
Research ArticleInsufficient bile acid signaling impairs liver repair in CYP27â/â mice
Keywords: زانتانوماتوز Cerebrotendinous; Liver repair; CYP27; Cerebrotendinous xanthomatosis; Bile acids; BA; bile acid; CTX; cerebrotendinous xanthomatosis; PH; partial hepatectomy; CCl4; carbon tetrachloride; FXR; farnesoid X receptor; CYP27; sterol 27-hydroxylase; CYP7A1; cholesterol-7α-hydr
Rare thesaurismosis and xanthomatosis
Keywords: زانتانوماتوز Cerebrotendinous; Xanthomatosis; Hyperlipoproteinemias; Familial hypercholesterolemia; Cerebrotendinous xanthomatosis; Sitosterolemia
Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment
Keywords: زانتانوماتوز Cerebrotendinous; Cerebrotendinous Xanthomatosis; CYP3A4; Rifampicin; Cholestanol;
Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?
Keywords: زانتانوماتوز Cerebrotendinous; Achilles tendon; Cerebellar ataxia; Cerebrotendinous xanthomatosis; Cholestanol; CYP3A4; Steroids;