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Your search keyword '"Mucopolysaccharidoses genetics"' showing total 7 results
Start Over Descriptor "Mucopolysaccharidoses genetics" Journal journal of pediatrics
7 results on '"Mucopolysaccharidoses genetics"'

2. Genetic heterogeneity in multiple lysosomal hydrolase deficiency.

Author

Glaser JH, McAlister WH, and Sly WS

Subjects
Cells, Cultured, Cervical Vertebrae diagnostic imaging, Child, Fibroblasts enzymology, Fibroblasts metabolism, Glucuronidase analysis, Glycosaminoglycans analysis, Hand Deformities, Acquired diagnostic imaging, Humans, Hydrolases analysis, Hydrolases blood, Leukocytes, Male, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses pathology, Pelvic Bones diagnostic imaging, Radiography, Sulfur Radioisotopes, Lysosomes enzymology, Mucopolysaccharidoses genetics
Published
1974
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3. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases.

Author

Borrone C, Gatti R, Trias X, and Durand P

Subjects
Adolescent, Blood Group Antigens, Child, Consanguinity, Female, Glycolipids analysis, Glycoside Hydrolases analysis, Glycoside Hydrolases biosynthesis, Glycoside Hydrolases physiology, Humans, Immune Sera, Male, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses enzymology, Mucopolysaccharidoses genetics, Mucopolysaccharidoses immunology, Mucopolysaccharidoses metabolism, Radiography, Saliva analysis, Spine diagnostic imaging, Syndrome, Fucose metabolism
Published
1974
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4. Variation in the phenotypic expression of beta-glucuronidase deficiency.

Author

Beaudet AL, DiFerrante NM, Ferry GD, Nichols BL Jr, and Mullins CE

Subjects
Adolescent, Animals, Cattle immunology, Cells, Cultured, Child, Preschool, Epiphyses diagnostic imaging, Female, Fibroblasts enzymology, Fibroblasts metabolism, Glucuronidase blood, Glycosaminoglycans urine, Humans, Infant, Newborn, Leukocytes enzymology, Male, Molecular Weight, Mucopolysaccharidoses diagnostic imaging, Mucopolysaccharidoses enzymology, Phenotype, Radiography, Ribs diagnostic imaging, Skin pathology, Glucuronidase deficiency, Mucopolysaccharidoses genetics
Abstract

Defiency of beta-glucuronidase was demonstrated in serum, leukocytes, and cultured skin fibroblasts of two unrelated patients. One patient died at 2 9/12 years with a phenotype consistent with severe mucopolysaccharidosis; the other is 14 years of age and well, except for hypertension and obstructive lesions of large blood vessels. Analysis of urinary mucopolysaccharides revealed impaired degradation of dermatan sulfate and, to a lesser extent, of heparan sulfate. Cultured skin fibroblasts accumulated excess glycosaminoglycans (the term glycosaminoglycans is synonymous with acid mucopolysaccharides) as indicated by 35-SO-4 uptake.

Published
1975
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5. A new mucopolysaccharidosis.

Author

Horton WA and Schimke RN

Subjects
Adolescent, Bone and Bones abnormalities, Carbohydrate Metabolism, Inborn Errors classification, Carbohydrate Metabolism, Inborn Errors urine, Child, Corneal Opacity urine, Female, Humans, Hypertrichosis, Intellectual Disability, Joint Diseases, Male, Mucopolysaccharidoses genetics, Mucopolysaccharidoses urine, Mucopolysaccharidosis IV, Retinitis Pigmentosa, Carbohydrate Metabolism, Inborn Errors genetics, Chondroitin urine, Corneal Opacity genetics, Heparin urine
Published
1970
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6. Vitamin A and mucopolysaccharidosis: a clinical and biochemical evaluation.

Author

Madsen JA and Linker A

Subjects
Adolescent, Ascites chemically induced, Child, Child, Preschool, Electroencephalography, Female, Glycosaminoglycans urine, Humans, Infant, Male, Retinitis Pigmentosa drug therapy, Serum Albumin analysis, Skin Window Technique, Splenomegaly chemically induced, Vitamin A adverse effects, Vitamin A blood, Carbohydrate Metabolism, Inborn Errors, Glycosaminoglycans metabolism, Intellectual Disability, Mucopolysaccharidoses drug therapy, Mucopolysaccharidoses genetics, Mucopolysaccharidosis IV, Vitamin A therapeutic use
Published
1969
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7. A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI).

Author

Baron RW and Neufeld EF

Subjects
Bone and Bones abnormalities, Diagnosis, Differential, Fibroblasts metabolism, Humans, Hypertrichosis diagnosis, In Vitro Techniques, Joint Diseases diagnosis, Mucopolysaccharidoses diagnosis, Mucopolysaccharidoses genetics, Retinitis Pigmentosa diagnosis, Sulfates metabolism, Sulfur Isotopes, Carbohydrate Metabolism, Inborn Errors diagnosis, Glycosaminoglycans metabolism
Published
1972
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