Literature DB >> 1907335

Different phenotypic expression of Fabry disease in female monozygotic twins.

T Levade1, F Giordano, A Maret, M C Marguery, J Bazex, R Salvayre.   

Abstract

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Year:  1991        PMID： 1907335     DOI： 10.1007/bf01804397

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


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  3 in total

1.  Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

Authors:  H H Ropers; T F Wienker; T Grimm; K Schroetter; K Bender
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

2.  Relationship between biochemical and clinical features in an English Anderson-Fabry family.

Authors:  M N Hamers; D Wise; A Ejiofor; A Strijland; D Robinson; J M Tager
Journal:  Acta Med Scand       Date:  1979

3.  Gene action in the X-chromosome of the mouse (Mus musculus L.).

Authors:  M F LYON
Journal:  Nature       Date:  1961-04-22       Impact factor: 49.962
  3 in total
  3 in total

1.  Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors:  Robin L Bennett; Kimberly A Hart; Erin O'Rourke; John A Barranger; Jack Johnson; Kay D MacDermot; Gregory M Pastores; Robert D Steiner; Ravi Thadhani
Journal:  J Genet Couns       Date:  2002-04       Impact factor: 2.537

2.  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

Review 3.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123
  3 in total

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