(Q28610244)

3 February 2017

title

The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism (English)

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3 February 2017

M. Cantz

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3 February 2017

J. Gehler

series ordinal

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3 February 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=820626

30 July 2022

publication date

29 June 1976

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3 February 2017

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3 February 2017

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3 February 2017

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3 February 2017

page(s)

233–255

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X-ray-diffraction patterns from chondroitin 4-sulphate, dermatan sulphate and heparan sulphate

3 February 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00295816

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00295816

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts

21 January 2018

1 reference

12 December 2020

The biochemical basis for mucopolysaccharidoses and mucolipidoses

1 reference

12 December 2020

Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver

1 reference

12 December 2020

Histochemical and electron microscopic study in a case of Hurler's disease

1 reference

12 December 2020

Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

1 reference

12 December 2020

Scheie and Hurler syndromes: apparent identity of the biochemical defect

1 reference

12 December 2020

A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

1 reference

12 December 2020

Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion

1 reference

12 December 2020

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification

1 reference

12 December 2020

Mucopolysaccharidosis VI (Maroteaux-Lamy's disease)

1 reference

12 December 2020

Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

1 reference

12 December 2020

A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts

1 reference

12 December 2020

Effect of leukocyte transfusion in a child with type II mucopolysaccharidosis

1 reference

12 December 2020

The structures of oligosaccharides accumulating in the liver of G-M1-gangliosidosis, type I.

1 reference

12 December 2020

Structure of dermatan sulfate. 3. The hybrid structure of dermatan sulfate from umbilical cord

1 reference

12 December 2020

Mucopolysaccharidosis type 3. Morphologic and biochemical studies of two siblings with Sanfilippo syndrome

1 reference

12 December 2020

Variation in the phenotypic expression of beta-glucuronidase deficiency

1 reference

12 December 2020

Demonstration of the heterozygous state in Hunter's syndrome

1 reference

12 December 2020

Identification of Iduronic Acid as the Major Sulfated Uronic Acid of Heparin

1 reference

12 December 2020

The Sanfilippo A corrective factor. Purification and mode of action

1 reference

12 December 2020

ULTRASTRUCTURE OF THE HEPATIC CELLS IN HURLER'S DISEASE (GARGOYLISM)

1 reference

12 December 2020

The linkage of dermatan sulfate to protein. II. Monosaccharide sequence of the linkage region

1 reference

12 December 2020

Cerebral GM1-gangliosidosis: chemical pathology of visceral organs.

1 reference

12 December 2020

Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus.

1 reference

12 December 2020

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

1 reference

12 December 2020

A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI)

1 reference

12 December 2020

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

1 reference

12 December 2020

Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase

1 reference

12 December 2020

Dermatan sulfate and heparitin sulfate in beef liver

1 reference

12 December 2020

Functions of lysosomes

1 reference

12 December 2020

Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency

1 reference

12 December 2020

Formation of three types of disulfated disaccharides from chondroitin sulfates by chondroitinase digestion

1 reference

12 December 2020

Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors

1 reference

12 December 2020

Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

1 reference

12 December 2020

Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency

1 reference

12 December 2020

The use of alpha-L-iduronidase activity determinations in leucocytes for the detection of Hurler and Scheie syndromes

1 reference

12 December 2020

Structure of the “keratosulfate-like” material in liver from a patient with GM1-gangliosidosis (β-D-galactosidase deficiency)

1 reference

12 December 2020

The Hurler corrective factor. Purification and some properties

1 reference

12 December 2020

The structure and metabolism of mucopolysaccharides (glycosaminoglycans) and the problem of the mucopolysaccharidoses

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12 December 2020

Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families

1 reference

12 December 2020

Corrective factors for inborn errors of mucopolysaccharide metabolism

1 reference

12 December 2020

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

1 reference

12 December 2020

Gargoylism; a mucopolysaccharidosis.

1 reference

12 December 2020

The systemic mucopolysaccharidoses.

1 reference

12 December 2020

Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

1 reference

12 December 2020

The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation

1 reference

12 December 2020

Gas chromatographic assay of iduronic and glucuronic acids as aldonic acid butaneboronates.

1 reference

12 December 2020

Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis

1 reference

12 December 2020

Excretion of sulfated mucopolysaccharides in gargoylism (Hurler's syndrome)

1 reference

12 December 2020

Intrauterine diagnosis of the hurler and hunter syndromes

1 reference

12 December 2020

The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.

1 reference

12 December 2020

A new dermatan polysulfate, chondroitin sulfate H, from hagfish notochord

1 reference

12 December 2020

Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture

1 reference

12 December 2020

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

1 reference

12 December 2020

Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase

1 reference

12 December 2020

Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells.

1 reference

12 December 2020

Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients

1 reference

12 December 2020

Uronic acid composition of heparins and heparan sulfates.

1 reference

12 December 2020

Hurler's syndrome, an -L-iduronidase deficiency

1 reference

12 December 2020

The Hunter corrective factor. Purification and preliminary characterization

1 reference

12 December 2020

The disaccharide repeating-units of heparan sulfate

1 reference

12 December 2020

Hurler's syndrome. A genetic study in cell culture

1 reference

12 December 2020

Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes

1 reference

12 December 2020

Structure of dermatan sulfate. II. Characterization of products obtained by hyaluronidase digestion of dermatan sulfate.

1 reference

12 December 2020

Isolation and identification of the glycosaminoglycans from fracture callus

1 reference

12 December 2020

Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase

1 reference

12 December 2020

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase

1 reference

12 December 2020

Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.

1 reference

12 December 2020

Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.

1 reference

12 December 2020

The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide

1 reference

12 December 2020

Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture

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12 December 2020

Enzymatic studies of oversulfated chondroitin sulfate in human aortic tissue

1 reference

12 December 2020

Hepatic uptake of proteins coupled to fetuin glycopeptide

1 reference

12 December 2020

Sanfilippo A disease in the fetus.

1 reference

12 December 2020

Letter: Phenotypic variation in alpha-L-iduronidase deficiency

1 reference

12 December 2020

The phenyl - and -L-idopyranosiduronic acids and some other aryl glycopyranosiduronic acids.

1 reference

12 December 2020

L-iduronidase in cultured human fibroblasts and liver

1 reference

12 December 2020

Absence of hyaluronidase in cultured human skin fibroblasts

1 reference

12 December 2020

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

1 reference

12 December 2020

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

1 reference

12 December 2020

Structure of Pig Skin Dermatan Sulfate. 2. Demonstration of Sulfated Iduronic Acid Residues

1 reference

12 December 2020

Lysosomal enzyme variations in cultured normal skin fibroblasts

1 reference

12 December 2020

Dimensions Publication ID

Identifiers

DOI

10.1007/BF00295816

0 references

1052099488

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1 reference