Results 71 to 80 of about 401 (83)

Lentivirus-mediated gene therapy for Fabry disease: 5-year End-of-Study results from the Canadian FACTs trial. [PDF]

open access: yesClin Transl Med
Khan A   +11 more
europepmc   +1 more source

Globotriaosylceramide Gb3 Influences Wound Healing and Scar Formation by Orchestrating Fibroblast Heterogeneity. [PDF]

open access: yesAdv Sci (Weinh)
Xie S   +13 more
europepmc   +1 more source

Long-Term Clinical-Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy. [PDF]

open access: yesJ Am Heart Assoc
Frustaci A   +11 more
europepmc   +1 more source

The structure of canine intestinal trihexosylceramide

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1979
One of the neutral glycosphingolipids isolated from dog intestine has a mobility on thin-layer chromatography and a carbohydrate composition similar to trihexosylceramides. Structural analysis has shown that it consists largely of isoglobotriaosylceramide, galactosyl(alpha-1-3)galactosyl(beta-1-4)glucosyl(beta 1-1')ceramide.
S S, Sung, C C, Sweeley
openaire   +2 more sources

Trihexosylceramide α-galactosidase of human leucocytes

Clinica Chimica Acta, 1978
Trihexosylceramide, isolated from human kidney and labelled in the terminal galactose position by oxidation with galactose oxidase and reduction with sodium boro[3H]hydride, was used to study some of the properties of human leucocyte alpha-galactosidase. The enzyme was inactive in the absence of detergent.
A, Poulos, K, Beckman
openaire   +2 more sources

Structure of trihexosylceramide biosynthesized in vitro by rat kidney galactosyltransferase

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1974
Abstract Trihexosylceramide biosynthesized in vitro from lactosylceramide and UDPgalactose in the presence of galactosyltransferase from rat kidney microsomes was shown by permethylation to consist of two positional isomers in which the galactopyranosyl units are linked 1 → 3 and 1→ 4, respectively.
A, Stoffyn, P, Stoffyn, G, Hauser
openaire   +2 more sources

Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease

The American Journal of Cardiology, 1996
An immunofluorescence method was applied to detect trihexosylceramide accumulated in the cardiac tissues from a variant hemizygote and a heterozygous female with Fabry disease, the incidence of which had been suspected to be high.
K, Itoh   +6 more
openaire   +2 more sources

A female heterozygous patient with fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody

American Journal of Kidney Diseases, 1995
We describe a female patient with heterozygous Fabry's disease. The patient had persistent proteinuria and microhematuria but lacked any other diagnostic signs such as corneal and cutaneous involvement. Kidney tissue obtained at biopsy showed the segmentally distributed enlarged glomerular epithelia.
M, Fukushima   +8 more
openaire   +2 more sources

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