Literature DB >> 8395937

Mutation analysis in patients with the typical form of Anderson-Fabry disease.

J P Davies1, B G Winchester, S Malcolm.   

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Year:  1993        PMID： 8395937     DOI： 10.1093/hmg/2.7.1051

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  18 in total

1.  Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

Authors:  Tomas Palecek; Jitka Honzikova; Helena Poupetova; Hana Vlaskova; Petr Kuchynka; Lubor Golan; Sudheera Magage; Ales Linhart
Journal:  J Inherit Metab Dis       Date:  2013-10-31       Impact factor: 4.982

2.  Novel trinucleotide deletion in Fabry's disease.

Authors:  M A Cariolou; M Christodoulides; P Manoli; A Kokkofitou; D Tsambaos
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Authors:  I Redonnet-Vernhet; J K Ploos van Amstel; R P Jansen; R A Wevers; R Salvayre; T Levade
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

4.  A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.

Authors:  N Miyamura; E Araki; K Matsuda; R Yoshimura; N Furukawa; K Tsuruzoe; T Shirotani; H Kishikawa; K Yamaguchi; M Shichiri
Journal:  J Clin Invest       Date:  1996-10-15       Impact factor: 14.808

5.  Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.

Authors:  Robert Dobrovolny; Lenka Dvorakova; Jana Ledvinova; Sudheera Magage; Jan Bultas; Jean C Lubanda; Milan Elleder; Debora Karetova; Marketa Pavlikova; Martin Hrebicek
Journal:  J Mol Med (Berl)       Date:  2005-04-02       Impact factor: 4.599

Review 6.  Personalized medicine in cardiovascular disease: review of literature.

Authors:  Ali Sheikhy; Aida Fallahzadeh; Hamid Reza Aghaei Meybodi; Mandana Hasanzad; Masih Tajdini; Kaveh Hosseini
Journal:  J Diabetes Metab Disord       Date:  2021-07-07

7.  Alpha-galactosidase transgenic mouse: heterogeneous gene expression and posttranslational glycosylation in tissues.

Authors:  S Ishii; R Kase; H Sakuraba; C Taya; H Yonekawa; T Okumiya; Y Matsuda; K Mannen; M Takeshita; Y Suzuki
Journal:  Glycoconj J       Date:  1998-06       Impact factor: 2.916

8.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

9.  Structural characterization of mutant alpha-galactosidases causing Fabry disease.

Authors:  Kanako Sugawara; Kazuki Ohno; Seiji Saito; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2008-07-17       Impact factor: 3.172

10.  Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Authors:  Frits A Wijburg; Bernard Bénichou; Daniel G Bichet; Lorne A Clarke; Gabriela Dostalova; Alejandro Fainboim; Andreas Fellgiebel; Cassiano Forcelini; Kristina An Haack; Robert J Hopkin; Michael Mauer; Behzad Najafian; C Ronald Scott; Suma P Shankar; Beth L Thurberg; Camilla Tøndel; Anna Tylki-Szymańska; Uma Ramaswami
Journal:  PLoS One       Date:  2015-05-08       Impact factor: 3.240
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