Literature DB >> 1405473

Paediatric cerebrotendinous xanthomatosis.

R A Wevers1, J R Cruysberg, A F Van Heijst, F S Janssen-Zijlstra, W O Renier, B G Van Engelen, J J Tolboom.   

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Year:  1992        PMID： 1405473     DOI： 10.1007/bf02435980

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

Review 1.  Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature.

Authors:  M Kuriyama; J Fujiyama; H Yoshidome; S Takenaga; K Matsumuro; T Kasama; K Fukuda; T Kuramoto; T Hoshita; Y Seyama
Journal:  J Neurol Sci       Date:  1991-04       Impact factor: 3.181

2.  Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.

Authors:  J R Cruysberg; R A Wevers; J J Tolboom
Journal:  Am J Ophthalmol       Date:  1991-11-15       Impact factor: 5.258

3.  Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings.

Authors:  J Peynet; A Laurent; P De Liege; P Lecoz; P Gambert; A Legrand; J Mikol; A Warnet
Journal:  Neurology       Date:  1991-03       Impact factor: 9.910

4.  Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis.

Authors:  T Nakamura; Y Matsuzawa; K Takemura; M Kubo; H Miki; S Tarui
Journal:  Metabolism       Date:  1991-07       Impact factor: 8.694

5.  Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography.

Authors:  B G Wolthers; M Volmer; J van der Molen; B J Koopman; A E de Jager; R J Waterreus
Journal:  Clin Chim Acta       Date:  1983-06-30       Impact factor: 3.786
  5 in total
  7 in total

1.  Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.

Authors:  H R Siebner; S Berndt; B Conrad
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-05       Impact factor: 10.154

2.  Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.

Authors:  M H Lee; S Hazard; J D Carpten; S Yi; J Cohen; G T Gerhardt; G Salen; S B Patel
Journal:  J Lipid Res       Date:  2001-02       Impact factor: 5.922

3.  Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment.

Authors:  Eric P Brass; Bianca M L Stelten; Aad Verrips
Journal:  JIMD Rep       Date:  2020-08-30

Review 4.  Mechanisms of disease: Inborn errors of bile acid synthesis.

Authors:  Shikha S Sundaram; Kevin E Bove; Mark A Lovell; Ronald J Sokol
Journal:  Nat Clin Pract Gastroenterol Hepatol       Date:  2008-06-24

Review 5.  Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Authors:  Janice C Wong; Kailey Walsh; Douglas Hayden; Florian S Eichler
Journal:  J Inherit Metab Dis       Date:  2018-02-26       Impact factor: 4.982

Review 6.  Psychiatric manifestations in cerebrotendinous xanthomatosis.

Authors:  M J Fraidakis
Journal:  Transl Psychiatry       Date:  2013-09-03       Impact factor: 6.222

Review 7.  Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.

Authors:  Olivier Bonnot; Hans Hermann Klünemann; Frederic Sedel; Sylvie Tordjman; David Cohen; Mark Walterfang
Journal:  Orphanet J Rare Dis       Date:  2014-04-28       Impact factor: 4.123
  7 in total

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