Journal ArticleDOI
Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.
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TLDR
In skin tissue culture, living cells were filled with dark granules showing an aspect characteristic of the “I-cell” phenotype, andFindings that distinguish this clinical pattern from the typical mucopolysaccharidoses are discussed.About:
This article is published in The Journal of Pediatrics.The article was published on 1971-09-01. It has received 103 citations till now. The article focuses on the topics: Chondrodystrophy.read more
Citations
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Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
TL;DR: Clinical, radiologic, and biochemical studies are presented of a patient with a previously undescribed mucopolysaccharide storage disease, suggesting an autosomal recessive inheritance.
Journal ArticleDOI
A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes
TL;DR: It is suggested that the packaging of lysosomal enzymes requires their secretion followed by specific recognition and uptake, and the I-cell mutation would interfere with this process by altering the recognition site on the hydrolases.
Journal ArticleDOI
I-Cell Disease: Biochemical Studies
TL;DR: In brain and visceral organs, only β-galactosidase is deficient, and a nonspecific accumulation of lipids of all classes occurs in skin fibroblasts, but not in brain or visceral organs.
Journal ArticleDOI
Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease
Misao Owada,Elizabeth F. Neufeld +1 more
TL;DR: Results suggest that in contrast to cultured skin fibroblasts, liver may be able to introduce into lysosomes acid hydrolases that lack the mannose 6-phosphate recognition marker.
BookDOI
Structure and function of gangliosides
TL;DR: Spherosil-DEAE-Dextran as discussed by the authors is a new anion exchange resins, built on porous glass beads covered with crosslinked DEAE-dextran.
References
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Journal ArticleDOI
Diamine methods for differentialing mucosubstances histochemically.
TL;DR: A mixture of N,N-dimethyl-rn-phenylenediamine (HCI)2 with the para isonter at pH 3.5-4.0 stains acid mucosubstautces selectively as mentioned in this paper.
Journal ArticleDOI
Hurler and Hunter Syndromes: Mutual Correction of the Defect in Cultured Fibroblasts
TL;DR: The biochemical defect of cultuired skin fibroblasts from Hurler or Hunter patients (faulty degradation of sulfated mucopolysaccharide, resulting in excessive intracellular accumulation) may be corrected if cells of these two genotypes are mixed with each other or with normal cells.
Journal ArticleDOI
The Abnormalities of Lysosomal Enzymes in Mucopolysaccharidoses
F. Van Hoof,H. G. Hers +1 more
TL;DR: The activity of acid hydrolases on 13 substrates has been measured in the liver of normal human subjects and of 32 patients with various forms of mucopolysaccharidoses, finding an enzymatic deficiency explains the known accumulation of galactose-rich mucopoly Saccharide fraction and galactosyl-N-acetylgalactosaminyl N- acetyl-neuraminyl)-galactOSylceramide (GM1 ganglioside).
Journal ArticleDOI
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide
TL;DR: The results suggest that the lesion(s) in both Hurler's and Hunter's syndromes is faulty degradation, and this study aims to determine whether it is a result of excessive synthesis, insufficient degradation, or defective secretion of mucopolysaccharide.
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Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts
Jules G. Leroy,Robert DeMars +1 more