Literature DB >> 1951610

Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.

J R Cruysberg, R A Wevers, J J Tolboom.   

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Year:  1991        PMID: 1951610     DOI: 10.1016/s0002-9394(14)76874-6

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


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  18 in total

1.  Paediatric cerebrotendinous xanthomatosis.

Authors:  R A Wevers; J R Cruysberg; A F Van Heijst; F S Janssen-Zijlstra; W O Renier; B G Van Engelen; J J Tolboom
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Children with cataract and chronic diarrhoea: cerebrotendinous xanthomatosis.

Authors:  J R M Cruysberg
Journal:  J Inherit Metab Dis       Date:  2009-03-09       Impact factor: 4.982

3.  Cerebrotendinous xanthomatosis--the spectrum of imaging findings.

Authors:  Arunachalam Pudhiavan; Alka Agrawal; Sangit Chaudhari; Anil Shukla
Journal:  J Radiol Case Rep       Date:  2013-04-01

4.  Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.

Authors:  M T Dotti; A Rufa; A Federico
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

5.  A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

Authors:  Andrea Mignarri; Gian Nicola Gallus; Maria Teresa Dotti; Antonio Federico
Journal:  J Inherit Metab Dis       Date:  2014-01-18       Impact factor: 4.982

6.  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

7.  Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation.

Authors:  N K Agrawal; Sunny Garg
Journal:  BMJ Case Rep       Date:  2012-09-21

Review 8.  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

9.  Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature.

Authors:  Vikas Saxena; Pavan Pradhan
Journal:  J Clin Orthop Trauma       Date:  2016-03-04

10.  Case Report: Cerebrotendinous xanthomatosis.

Authors:  Amit A Karandikar; S Pushparajan; Madhavan N Unni; R Srinivas
Journal:  Indian J Radiol Imaging       Date:  2009 Oct-Dec
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