Literature DB >> 21825196

Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign.

Dinelli M Monson1, Andrea E DeBarber, Charles J Bock, George Anadiotis, Louise S Merkens, Robert D Steiner, Ann U Stout.   

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Year:  2011        PMID： 21825196      PMCID： PMC3366103          DOI： 10.1001/archophthalmol.2011.219

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  4 in total

1.  Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease.

Authors:  Johannes R M Cruysberg
Journal:  Arch Neurol       Date:  2002-12

2.  Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.

Authors:  Matthew T Lorincz; Shirley Rainier; Donald Thomas; John K Fink
Journal:  Arch Neurol       Date:  2005-09

Review 3.  Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.

Authors:  G N Gallus; M T Dotti; A Federico
Journal:  Neurol Sci       Date:  2006-06       Impact factor: 3.307

4.  Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

Authors:  Vladimir M Berginer; Bella Gross; Khayat Morad; Nechama Kfir; Siman Morkos; Salameh Aaref; Tzipora C Falik-Zaccai
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124
  4 in total
  8 in total

1.  Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.

Authors:  Rgia A Othman; Semone B Myrie; David Mymin; Jean-Baptiste Roullet; Andrea E DeBarber; Robert D Steiner; Peter J H Jones
Journal:  J Pediatr       Date:  2017-06-16       Impact factor: 4.406

Review 2.  Genetics of familial hypercholesterolemia.

Authors:  Ariel Brautbar; Emili Leary; Kristen Rasmussen; Don P Wilson; Robert D Steiner; Salim Virani
Journal:  Curr Atheroscler Rep       Date:  2015-04       Impact factor: 5.113

Review 3.  An Eye on Movement Disorders.

Authors:  Duncan Wilson; Mark Hallett; Tim Anderson
Journal:  Mov Disord Clin Pract       Date:  2021-08-10

4.  Effect of Cyp27A1 gene dosage on atherosclerosis development in ApoE-knockout mice.

Authors:  Line Zurkinden; Curzio Solcà; Isabelle A Vögeli; Bruno Vogt; Daniel Ackermann; Sandra K Erickson; Felix J Frey; Dmitri Sviridov; Geneviève Escher
Journal:  FASEB J       Date:  2013-12-10       Impact factor: 5.191

5.  Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Authors:  Bianca M L Stelten; Olivier Bonnot; Hidde H Huidekoper; Francjan J van Spronsen; Peter M van Hasselt; Leo A J Kluijtmans; Ron A Wevers; Aad Verrips
Journal:  J Inherit Metab Dis       Date:  2017-09-11       Impact factor: 4.982

Review 6.  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

7.  An adult man with progressive dysarthria, dysphagia and disequilibrium.

Authors:  Mohammad Rohani
Journal:  Iran J Neurol       Date:  2012

8.  Bilateral Xanthomas of Tendoachilles in A Patient of Cerebrotendinous Xanthomatosis - A Rare Case Report and Review of Literature.

Authors:  Vrk Sastri; V S Ravindranath; Sreenivasulu Metikala; Madhusudhan Kumar
Journal:  J Orthop Case Rep       Date:  2014 Oct-Dec
  8 in total

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