Literature DB >> 9301368

Neutral lipid storage disease--response to dietary intervention.

T Kakourou, E Drogari, H Christomanou, A Giannoulia, C Dacou-Voutetakis.   

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Year:  1997        PMID： 9301368      PMCID： PMC1717261          DOI： 10.1136/adc.77.2.183c

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  7 in total

1.  Dorfman-Chanarin syndrome.

Authors:  Sujeet Chilkar; Pradnya Paikrao; Ira Shah
Journal:  Indian J Gastroenterol       Date:  2012-06

2.  Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Authors:  Chiara Redaelli; Rosalind A Coleman; Laura Moro; Catherine Dacou-Voutetakis; Solaf Mohamed Elsayed; Daniele Prati; Agostino Colli; Donatella Mela; Roberto Colombo; Daniela Tavian
Journal:  Orphanet J Rare Dis       Date:  2010-12-01       Impact factor: 4.123

3.  Chanarin-dorfman syndrome with multi-system involvement in two siblings.

Authors:  Seçil Arslansoyu Çamlar; Pınar Gençpınar; Balahan Makay; Ayşe Yüzbaşıoğlu; Nur Arslan; Serap Emre Dökmeci; Ozden Anal; Galip Köse
Journal:  Turk J Haematol       Date:  2013-03-05       Impact factor: 1.831

4.  Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Authors:  Bo Liang; He Huang; Jiaxiang Zhang; Gang Chen; Xiangsheng Kong; Mengting Zhu; Peiguang Wang; Lili Tang
Journal:  Front Genet       Date:  2022-03-28       Impact factor: 4.599

5.  Chanarin-Dorfman syndrome treatment with acitretin.

Authors:  Reem AlNeyadi; Shaden Abdelhadi; Zbigniew Ruszczak
Journal:  JAAD Case Rep       Date:  2022-03-31

6.  Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.

Authors:  Sara Missaglia; Eugenia Ribeiro Valadares; Laura Moro; Eleonora Druve Tavares Faguntes; Raquel Quintão Roque; Bruno Giardina; Daniela Tavian
Journal:  BMC Med Genet       Date:  2014-03-14       Impact factor: 2.103

7.  Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly.

Authors:  Sandeep Arora; Shuvendu Roy; Divya Arora; Chetan Patil; Arun Kumar Jain
Journal:  Indian J Dermatol       Date:  2017 Sep-Oct       Impact factor: 1.494
  7 in total

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