(Q33586932)

28 July 2017

title

The mucopolysaccharidoses. (English)

1 reference

28 July 2017

Pennock CA

1

1 reference

28 July 2017

Barnes IC

series ordinal

2

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1976

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

13

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

169-181

1 reference

TISSUE STORAGE OF MUCOPOLYSACCHARIDES IN HURLER-PFAUNDLER'S DISEASE.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The excretion of glucuronic acid and of acid mucopolysaccharides in normal human urine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Studies on the chemistry of the arterial wall, XI. Demonstration, purification and properties of a chondroitin-4-sulfatase from bovine aorta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Hepatic uptake of proteins coupled to fetuin glycopeptide

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The resolution of aryl sulfatase and heparin sulfamidase activities from various rat tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

L-iduronidase in cultured human fibroblasts and liver

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Deficiency of 4-methyl umbelliferyl-beta-galactosidase activity in the liver of seven patients with Hurler's disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Acid hydrolases in skin and plasma in gargoylism. Deficiency of beta-galactosidase in skin.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Modification of urinary mucopolysaccharide excretion in patients with Hurler's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Studies on the heparin sulphamidase activity from rat spleen. Intracellular distribution and characterization of the enzyme

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The Hunter corrective factor. Purification and preliminary characterization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Sanfilippo A disease in the fetus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Failure to induce scurvy by ascorbic acid depletion in a patient with Hurler's syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Mucopolysaccharidosis VI (Maroteaux-Lamy disease). Clinical and biochemical study of a mild variant case.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Effects of fresh plasma or whole blood transfusions on patients with various types of mucopolysaccharidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Hepatic acid mucopolysaccharides in the mucopolysaccharidoses type I, II and 3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Effect of leukocyte transfusion in a child with type II mucopolysaccharidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Corrective factors for inborn errors of mucopolysaccharide metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Morquio's disease and mucopolysaccharide excretion.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Protein-carbohydrate compounds in human urine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The nosology of the mucopolysaccharidoses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Classification of the mucopolysaccharidoses based on the pattern of mucopolysacchariduria.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Beta-galactosidase deficiency in the hurler syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The glycosaminoglycans of human plasma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Hunter-Hurler syndrome: gel filtration and dialysis of urinary acid mucopolysaccharides

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The structure of acid mucopolysaccharides produced by Hurler fibroblasts in tissue culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Hurler's syndrome. Effect of retinol (vitamin A alcohol) on cellular mucopolysaccharides in cultured human skin fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Amino acid metabolism in patients with Hurler's syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Hepatic ultrastructure in the Hurler syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Evolution of enzyme replacement therapy for lipid storage diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Hurler's syndrome. A genetic study in cell culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Antenatal detection of Hurler's syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

A chemical method for the antenatal diagnosis of mucopolysaccharidoses.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Chemical definition of the mucopolysaccharidoses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Gargoylism; a mucopolysaccharidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The nomenclature of mucopolysaccharides

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

The transglycosylative action of testicular hyaluronidase.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast Cultures

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Generalized gangliosidosis: beta-galactosidase deficiency.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

White-cell beta-galactosidase activity

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Scheie and Hurler syndromes: apparent identity of the biochemical defect

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

A chemical method for the antenatal diagnosis of mucopolysaccharidoses.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013390

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

31 October 2018

1 reference

12 December 2020

Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of a novel sulphatase from rat liver

1 reference

12 December 2020

Identity of β-glucosidase and β-xylosidase activities in rat liver lysosomes

1 reference

12 December 2020

β-D-xylosidase in pig kidney

1 reference

12 December 2020

Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome

1 reference

12 December 2020

Variation in the phenotypic expression of beta-glucuronidase deficiency

1 reference

12 December 2020

The fate of the sulfate group of chondroitin sulfate after administration to rats

1 reference

12 December 2020

Some aspects of the metabolism of chondroitin sulfate-S35 in the rat

1 reference

12 December 2020

The metabolism of mucopolysaccharides in animals: the effect of cortisone and hydrocortisone on rat skin

1 reference

12 December 2020

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

1 reference

12 December 2020

Morquio's disease: An abnormality of mucopolysaccharide metabolism

1 reference

12 December 2020

Long-term corticosteroid therapy in Hurler syndrome

1 reference

12 December 2020

THE PRESENCE OF HYALURONIDASE IN VARIOUS MAMMALIAN TISSUES

1 reference

12 December 2020

[STUDIES ON THE CHEMISTRY OF THE ARTERIAL WALL. VII. PURIFICATION AND PROPERTIES OF BETA-ACETYLGLUCOSAMINIDASE FROM THE AORTA OF CATTLE]

1 reference

12 December 2020

PURIFICATION AND PROPERTIES OF A BETA-N-ACETYL-D-HEXOSAMINIDASE FROM CATTLE SPLEEN

1 reference

12 December 2020

Enzumatic formation of monosaccharides from hyaluronate

1 reference

12 December 2020

Isolation and Identification of Keratosulphate in Urine of Patients Affected by Morquio-Ullrich Disease

1 reference

12 December 2020

The genetic mucopolysaccharidoses

1 reference

12 December 2020

Vitamin C-induced increase of dermatan sulfate in cultured Hurler's fibroblasts

1 reference

12 December 2020

Structural studies on heparitin sulfate of normal and Hurler tissues

1 reference

12 December 2020

Thrombosis and oestrogens

1 reference

12 December 2020

A genetic cell marker in cystic fibrosis of the pancreas

1 reference

12 December 2020

Intrauterine diagnosis of the hurler and hunter syndromes

1 reference

12 December 2020

Morquio-Brailsford disease. A report of four affected sisters with absence of excessive keratan sulphate in the urine

1 reference

12 December 2020

Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.

1 reference

12 December 2020

An assay for iduronate sulfatase (Hunter corrective factor)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV)

1 reference

12 December 2020

The accumulation of hyaluronic acid in cultured fibroblasts of the Marfan syndrome

1 reference

12 December 2020

Antenatal detection of hereditary disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Vitamin A and mucopolysaccharidosis: a clinical and biochemical evaluation

1 reference

12 December 2020

Biochemical definition of the mucopolysaccharidoses

1 reference

12 December 2020

[Biochemical differentiation of Hurler's and Hunter's diseases by fracionation of heparitin sulfate]

1 reference

12 December 2020

Inborn errors of mucopolysaccharide metabolism

1 reference

12 December 2020

A heparin sulfamidase from mammalian lymphoid tissues

1 reference

12 December 2020

Beta-galactosidases in fibroblasts: Hurler and Sanfilippo syndromes

1 reference

12 December 2020

Mucopolysaccharidosis VI (Maroteaux-Lamy's disease)

1 reference

12 December 2020

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

1 reference

12 December 2020

Acid glycosidases in mucopolysaccharidoses fibroblasts

1 reference

12 December 2020

The Hurler corrective factor. Purification and some properties

1 reference

12 December 2020

Acid hydrolases in the serum and liver in mucopolysaccharidoses types I and 3

1 reference

12 December 2020

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

1 reference

12 December 2020

The Sanfilippo A corrective factor. Purification and mode of action

1 reference

12 December 2020

Hurler's syndrome, an -L-iduronidase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Inefficacy of fresh frozen plasma therapy of mucopolysaccharidosis II

1 reference

12 December 2020

Identifiers

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1 reference

28 July 2017

1 reference