Literature DB >> 12408193

A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

P Ip1, W Goh, K W Chan, P T Cheung.   

Abstract

We report a 6-year-old boy with an intermediate form of fucosidosis.

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Year:  2002        PMID： 12408193     DOI： 10.1023/a:1020116220624

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


  3 in total

1.  A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.

Authors:  C J Fleming; D U Sinclair; E J White; B Winchester; M L Whiteford; J M Connor
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

Review 2.  Spectrum of mutations in fucosidosis.

Authors:  P J Willems; H C Seo; P Coucke; R Tonlorenzi; J S O'Brien
Journal:  Eur J Hum Genet       Date:  1999-01       Impact factor: 4.246

3.  A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings.

Authors:  K Inui; M Akagi; T Nishigaki; T Muramatsu; H Tsukamoto; S Okada
Journal:  Brain Dev       Date:  2000-01       Impact factor: 1.961
  3 in total
  5 in total

1.  Phenotypic spectrum of fucosidosis in Tunisia.

Authors:  H Ben Turkia; N Tebib; H Azzouz; M S Abdelmoula; J Bouguila; H Sanhaji; N Miladi; I Maire; C Caillaud; N Kaabachi; M F Ben Dridi
Journal:  J Inherit Metab Dis       Date:  2008-07-27       Impact factor: 4.982

2.  Mutation identification and characterization of a Taiwanese patient with fucosidosis.

Authors:  Shuan-Pei Lin; Jui-Hung Chang; Maria Paez de la Cadena; Ting-Fang Chang; Guey-Jen Lee-Chen
Journal:  J Hum Genet       Date:  2007-04-11       Impact factor: 3.172

3.  Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report.

Authors:  Xinwen Zhang; Shaozhi Zhao; Hongwei Liu; Xiaoyan Wang; Xiaolei Wang; Nan Du; Hui Liu; Hongfang Duan
Journal:  J Int Med Res       Date:  2021-04       Impact factor: 1.671

Review 4.  Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.

Authors:  Karolina M Stepien; Elżbieta Ciara; Aleksandra Jezela-Stanek
Journal:  Genes (Basel)       Date:  2020-11-22       Impact factor: 4.096

Review 5.  Fucosidosis in a Chinese boy: a case report and literature review.

Authors:  Lingxing Wang; Meili Yang; Shanyan Hong; Ting Tang; Jiaxin Zhuang; Honghong Huang
Journal:  J Int Med Res       Date:  2020-04       Impact factor: 1.671
  5 in total

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