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Scholar Results 1 - 10 of about 37 citing PHILIPPART: Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. (0.07 sec) 

Natural history of Fabry renal disease: influence of [alpha]-galactosidase A activity and …


MH Branton, R Schiffmann, SG Sabnis, GJ … - Medicine, 2002 - journals.lww.com
Fabry disease is an X-linked sphingolipidosis caused by complete or partial
deficiency of the gly- cohydrolase -galactosidase A (-gal A) (4). The enzyme
deficiency results in accumulation of globo- triaosylceramide (Gb3, also ...
Cited by 143 - Related articles - BL Direct - All 3 versions

Excellent outcome of renal transplantation in patients with Fabry's disease


A Ojo, HU Meier-Kriesche, G Friedman, J … - Transplantation, 2000 - journals.lww.com
Introduction. Fabry's disease is an X-linked error of glycosphingolipid
metabolism. Clinical manifestations of the disease are secondary to accumulation
of glycosphingolipids in various tissues. Renal failure and vascular ...
Cited by 59 - Related articles - BL Direct - All 5 versions

Biochemistry and genetics of gangliosidoses


K Sandhoff, H Christomanou - Human Genetics, 1979 - Springer
Summary. The gangliosidoses comprise an-ever increasing number of bio-
chemically and phenotypically variant diseases. In most of them an autosomal
recessive inherited deficiency of a lysosomal hydrolase results in the ...
Cited by 54 - Related articles - All 3 versions

Light-and electron-microscopic histochemistry of Fabry's disease


T Faraggiana, J Churg, E Grishman, L … - American Journal of Pathology, 1981 - ASIP
A histochemical study was performed on light- and electron-microscopic level in
a case of Fabry's disease. The patient underwent kidney transplantation for
renal failure and died of heart failure 6 months later. Patient's tissues ...
Cited by 51 - Related articles - All 3 versions

Transplantation in relation to the treatment of inherited disease


CG GROTH, O RINGDEN - Transplantation, 1984 - journals.lww.com
320 TRANSPLANTATION Vol. 38, No. 4 lying causes for secondary amyloidosis that
has led to uremia and transplantation have been familial Mediterranean fever,
rheumatoid arthritis and osteomyelitis. Survival after trans- plantation in ...
Cited by 35 - Related articles - All 3 versions

Natural history and treatment of uremia secondary to Fabry's disease: an European …


D Donati, R Novario, L Gastaldi - Nephron, 1987 - content.karger.com
Fabry's disease, a very unusual cause of end-stage renal disease, is actually
included in the contraindications to renal transplantation. The few published
studies, based on very few patients, report a high rate of life-threatening ...
Cited by 30 - Related articles - All 5 versions

Attempt at enzyme replacement by fetal liver transplantation in Fabry's disease


JL Touraine, MC Malik, J Traeger, H Perrot, I … - The Lancet, 1979 - Elsevier
RL Simmons, RJ Desnick, JS Najarian and W. Krivit, Cours International de
Transplantation p. 59 Lyon . (1973). ... MW Spence, KE Mac Kinnon, JK Burgess,
DW D'Entremont, P. Belitsky, SG Lannon and A. MacDunaldJ. Ann intern Med 84 ...
Cited by 14 - Related articles - All 3 versions

Two dimensional echocardiographic similarity of Fabry's disease to cardiac amyloidosis: A …


IS Cohen, J Fluri-Lundeen, TP Wharton - Journal of clinical ultrasound: JCU, 1983 - ncbi.nlm.nih.gov
A 53-year-old man with Fabry's disease was studied by echocardiography. Both
M-mode and two dimensional echocardiographic examinations produced findings
indistinguishable from those previously described as virtually diagnostic ...
Cited by 14 - Related articles - All 3 versions

Kidney transplantation in Fabry's disease.

- nih.gov [PDF] 
FR Buhler, G Thiel, UC Dubach, F Enderlin, F … - British Medical Journal, 1973 - bmj.com
Page 1. doi:10.1136/bmj.3.5870.28 1973;3;28-29 Br Med J FR Bühler, G Thiel,
UC Dubach, F Enderlin, F Gloor and H Thölen Kidney ...
Cited by 12 - Related articles - All 5 versions

Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism


M Emmett, RG Narins - JAMA, 1978 - Am Med Assoc
In glycogenosis type 1 (GT1), glucose synthesis is deficient due to absence of
glucose-6-phosphatase. Development of renal failure in such a patient provided
the opportunity to test whether or not this metabolic defect could be ...
Cited by 12 - Related articles - All 2 versions


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