A deficiency of lysosomal b-d-galac-tosidase (bG; EC 3.2.1.23) is the pri-mary defect in the three clinical forms (infantile, juvenile, and adult) of GM1 gangliosidosis and in Morquio B syndrome. Patients with the infantile form of GM1 gangli-osidosis (type 1), who usually die before the age of 3 years, display the coarse face, hepatosplenomegaly, and skeletal dysplasia reminiscent of Hurler disease. Cases with later on-set, described as the late infantile/ juvenile form (type 2), display pro-gressive psychomotor loss but les
Diagnosis of GM1 gangliosidosis (OMIM 230500) is usually based on the presence of physical signs of ...
Abstract Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal stora...
Three sisters (ages 27, 24, and 17 years) presented with slowly progressing dystonic dementia and sp...
Beta-galactosidase-1 deficiency is rare lysosomal storage disorder which is also called as GLB1 defi...
GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile,...
Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration...
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, a...
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, a...
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old ...
International audienceIntroduction This study aims to define the phenotypic and molecular spectrum o...
Background: GM-1 gangliosidosis is included in the group of lysosomal diseases and is characterized ...
AbstractGM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) defic...
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysos...
BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal re...
We describe 12 subjects of ten unrelated families from the region of Campinas and the southern state...
Diagnosis of GM1 gangliosidosis (OMIM 230500) is usually based on the presence of physical signs of ...
Abstract Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal stora...
Three sisters (ages 27, 24, and 17 years) presented with slowly progressing dystonic dementia and sp...
Beta-galactosidase-1 deficiency is rare lysosomal storage disorder which is also called as GLB1 defi...
GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile,...
Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration...
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, a...
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, a...
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old ...
International audienceIntroduction This study aims to define the phenotypic and molecular spectrum o...
Background: GM-1 gangliosidosis is included in the group of lysosomal diseases and is characterized ...
AbstractGM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) defic...
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysos...
BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal re...
We describe 12 subjects of ten unrelated families from the region of Campinas and the southern state...
Diagnosis of GM1 gangliosidosis (OMIM 230500) is usually based on the presence of physical signs of ...
Abstract Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal stora...
Three sisters (ages 27, 24, and 17 years) presented with slowly progressing dystonic dementia and sp...