J. Inherit. Metab. Dis
. 2006; 29: 106–111. Doi: 10.1007/
s10545-006-0196-0.
2. Germain D. P. Fabry disease.
Orphanet J. Rare Dis
. 2010; 5: 30.
3. Poorthuis B. J., Wevers R. A., Kleijer W. J., Groener J. E., de
Jong J. G., van Weely S., Niezen-Koning K. E., van Diggelen O. P. The
frequency of lysosomal storage diseases in The Netherlands.
Hum.
Genet.
1999; 105: 151–156.
4. Meikle P. J., Hopwood J. J., Clague A. E., Carrey W. F. Prevalence
of lysosomal storage disorders.
JAMA
. 1999; 281: 249–254. Doi:
10.1001/jama.281.3.249.
5. Spada M., Pagliardini S., Yasuda M., Tukel T., Thiagarajan G.,
Sakuraba H., Ponzone A., Desnick R. J. High incidence of later-onset
fabry disease revealed by newborn screening.
Am. J. Hum. Genet.
2006; 79: 31–40. Doi: 10.1086/504601.
6. Lyon M. F. Gene action in the X-chromosome of the mouse
(Mus musculus L.).
Nature
. 1961; 190: 372–373.
7. Eng C. M., Desnick R. J. Molecular basis of Fabry disease: muta-
tions and polymorphisms in the human alpha-galactosidase A gene.
Hum. Mutat
. 1994; 3 (2): 103–111.
8. Ashton-Prolla P., Tong B., Shabbeer J., Astrin K. H., Eng C. M.,
Desnick R.
J. Fabry disease: twenty-two novel mutations in the
alpha-galactosidase A gene and genotype/phenotype correlations
in severely and mildly affected hemizygotes and heterozygotes.
J. Investig. Med
. 2000; 48 (4): 227–235.
9. Knol I. E., Ausems M. G., Lindhout D., van Diggelen O. P., Ver-
wey H., Davies J., Ploos van Amstel J. K., Poll-The B. T. Different
phenotypic expression in relatives with fabry disease caused by a
W226X mutation.
Am. J. Med. Genet.
1999; 82 (5): 436–449.
10. Elleder M., Bradova V., Smid F., Budesinsky M., Harzer K.,
Kustermann-Kuhn B., Ledvinova J., Belohlavek X., Kral V., Dora zi lo-
va V. Cardiocyte storage and hypertrophy as a sole manifestation
of Fabry's disease.
Virchows Arch. Pathol. Anat. Histopathol
. 1990;
417: 449–455. Doi: 10.1007/BF01606034.
11. Nakao S., Takenaka T., Maeda M., Kodama C., Tanaka A.,
Tahara M., Yoshida A., Kuriyama M., Hayashibe H., Sakuraba H.,
Tanaka H. An atypical variant of Fabry's disease in men with left
ventricular hypertrophy.
N. Engl. J. Med
. 1995; 333: 288–293. Doi:
10.1056/NEJM199508033330504.
12. Nakao S., Kodama C., Takenaka T., Tanaka A., Yasumoto Y.,
Yoshi da A., Kanzaki T., Enriquez A. L., Eng C. M., Tanaka H., Tei C.,
Des nick R. J. Fabry disease: detection of undiagnosed hemodialysis
patients and identification of a «renal variant» phenotype.
Kidney Int.
2003; 64: 801–807. Doi: 10.1046/j.1523-1755.2003.00160.x.
13. Wilcox W. R., Oliveira J. P., Hopkin R. J., Ortiz A., Banikazemi M.,
Feldt-Rasmussen U., Sims K., Waldek S., Pastores G. M., Lee P.,
Eng C. M., Marodi L., Stanford K. E., Breunig F., Wanner C., War-
nock D. G., Lemay R. M., Germain D. P. Females with Fabry disease
frequently have major organ involvement: lessons from the Fabry
Registry.
Mol. Genet. Metab
. 2008; 93: 112–128. Doi: 10.1016/j.
ymgme.2007.09.013.
14. Maier E. M., Osterrieder S., Whybra C., Ries M., Gal A., Beck M.,
Roscher A. A., Muntau A. C. Disease manifestations and
inacti-
va tion in heterozygous females with Fabry disease.
Acta Paediatr.
(Supp.)
. 2006; 95: 30–38. Doi: 10.1080/08035320600618809.
15. Migeon B. R. X inactivation, female mosaicism, and sex diffe-
rences in renal diseases.
J. Am. Soc. Nephrol.
2008; 19: 2052–
2059. Doi: 10.1681/ASN.2008020198.
16. Hopkin R. J., Bissler J., Banikazemi M., Clarke L., Eng C. M.,
Ger main D. P., Lemay R., Tylki-Szymanska A., Wilcox W. R. Charac-
te rization of Fabry Disease in 352 Pediatric Patients in the Fabry
Registry.
Достарыңызбен бөлісу: |