mucopolysaccharidoses/phosphatase

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[Changes in acid phosphatase activity induced by vitamin A in cultures of fibroblasts from a patient with mucopolysaccharidosis].

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Ingia / Ingia

Mucopolysaccharidosis type VII. A morphologic, cytochemical, and ultrastructural study of the blood and bone marrow.

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Ingia / Ingia

The morphologic, cytochemical, and ultrastructural pathology of the blood and bone marrow of an infant with Mucopolysaccharidosis Type VII (MPS VII) is reported. The neutrophils, monocytes, basophils, and eosinophils contained prominent granulation of the Alder-Reilly type. The lymphocytes, plasma

The suramin-treated rat as a model of mucopolysaccharidosis. Variation in the reversibility of biochemical and morphological changes among different organs.

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Ingia / Ingia

We have examined the reversibility of the biochemical and pathological changes induced in the spleen, kidney and lung of the suramin-treated rat which we have previously proposed as a useful model of the human condition, mucopolysaccharidosis (MPS). Rats were injected with a single intravenous dose

Fine structural and ultracytochemical studies on the lymphocytes in three types of genetic mucopolysaccharidoses.

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Ingia / Ingia

Lymphocytes from 6 patients with 3 types of genetic mucopolysaccharidoses (Hurler's syndrome, Hunter's syndrome and Morquio's syndrome) contained numberous vacuoles in their cytoplasm. The size of the vacuoles ranged from approximately 300 nm to 750 nm. The percentage of the lymphocytes with

Alkaline Phosphatase Activity Induction in Human Spleen Sinuses in Storage Diseases.

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Ingia / Ingia

Human splenic sinuses were observed for the induction of alkaline phosphatase (AP) activity in mucopolysaccharidoses of type I and II, in GM1 gangliosidosis, and in Niemann-Pick's disease, type A. A substantially lower degree of activity was found in Sanfillipo's disease, type A, and in hemosiderin

A superfamily of metalloenzymes unifies phosphopentomutase and cofactor-independent phosphoglycerate mutase with alkaline phosphatases and sulfatases.

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Ingia / Ingia

Sequence analysis of the probable archaeal phosphoglycerate mutase resulted in the identification of a superfamily of metalloenzymes with similar metal-binding sites and predicted conserved structural fold. This superfamily unites alkaline phosphatase, N-acetylgalactosamine-4-sulfatase, and

Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI.

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Ingia / Ingia

OBJECTIVE Skeletal disease causes significant morbidity in mucopolysaccharidoses (MPS), and bone remodeling processes in MPS have not been well characterized. The objective of this study was to determine if biomarkers of bone turnover are abnormal in children with specific MPS disorders (i.e. MSP-I,

Cytochemistry of the skin of patients with mucopolysaccharidoses.

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Ingia / Ingia

The distribution of complex carbohydrates has been investigated at the light and electron microscope levels in sweat glands of normal subjects and patients with Hurler's or Hunter's disease. Normal sweat glands examined with a battery of light microscopic histochemical methods revealed sulphated

A light and electron microscopic study of mannosidosis.

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Ingia / Ingia

The present work investigated the light and electron microscopic changes in hypertrophied gingiva in a patient with mannosidosis. The biopsy specimens studied covered a period of 20 months; biopsy specimens were taken before and after a therapeutic trial with oral and local zinc sulfate. The

The effects of acid glycosaminoglycans on neonatal calvarian cultures--a role of keratan sulfate in Morquio syndrome?

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Ingia / Ingia

Morquio syndrome (mucopolysaccharidosis IV) presents with multiple bone dysplasia and is characterized by the inability to degrade keratan sulfate due to deficient N-acetylgalactosamine-6-sulfate sulfatase in Morquio A syndrome and deficient beta-D-galactosidase in Morquio B syndrome. The aim of our

Receptor-mediated endocytosis of fibroblast beta-glucuronidase by peritoneal macrophages.

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Ingia / Ingia

beta-Glucuronidase secreted by mouse 3T3 fibroblasts in vitro was taken up into mouse peritoneal macrophages and into human fibroblasts by a process which was rapid and saturable. High concentrations of mannose-containing compounds inhibited uptake into macrophages but had no effect on uptake into

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.

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Ingia / Ingia

Fibroblasts were cultured from the cells of two children who shared some characteristics of Hurler syndrome, but they did not show corneal clouding and excessive excretion of mucopolysaccharides. The fibroblasts differ from those of controls and of patients with typical Hurler syndrome or other

Possibilities for the cytochemical diagnosis of enzymopathies.

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Ingia / Ingia

The authors review the contemporary uses of histochemistry for the diagnosis of enzymopathies. Enterokinase, lactase, sucrase and trehalase deficiency can be diagnosed by histochemical methods. In glycogenoses, glycogen storage and glucose-6-phosphatase, acid alpha-glucosidase and phosphorylase

Prolonged Expression of Secreted Enzymes in Dogs After Liver-Directed Delivery of Sleeping Beauty Transposons: Implications for Non-Viral Gene Therapy of Systemic Disease.

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Ingia / Ingia

The non-viral, integrating Sleeping Beauty (SB) transposon system is efficient in treating systemic monogenic disease in mice, including hemophilia A and B caused by deficiency of blood clotting factors and mucopolysaccharidosis types I and VII caused by α-L-iduronidase (IDUA) and β-glucuronidase

Acid hydrolases in serum from patients with lysosomal disorders.

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Ingia / Ingia

The activity of acid hydrolases was studied in serum from patients with mucolipidosis (II and III) and other lysosomal disorders. In mucolipidosis II and III all hydrolases examined except alpha-glucosidase, beta-glucosidase and acid phosphatase were greatly increased. High values for

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