Literature DB >> 9762612

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

C J Fleming1, D U Sinclair, E J White, B Winchester, M L Whiteford, J M Connor.   

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Year:  1998        PMID： 9762612     DOI： 10.1023/a:1005405222252

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


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  5 in total

1.  A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

Authors:  P Ip; W Goh; K W Chan; P T Cheung
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

2.  Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis.

Authors:  Zachary Armstrong; Richard W Meek; Liang Wu; James N Blaza; Gideon J Davies
Journal:  Structure       Date:  2022-07-29       Impact factor: 5.871

3.  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

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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