Results 101 to 110 of about 796 (126)

The Genetic Mucopolysaccharidoses and Mucolipidoses: Review and Comment

Advances in Pediatrics, 1975
Elaine R Berman
exaly   +3 more sources

Mucolipidoses (ML)

, 2012
openaire   +2 more sources

Mucolipidoses (ML)

, 2008
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Deficiency of neuraminidase in the sialidoses and the mucolipidoses

Human Genetics, 1980
Neuraminidase activity in cultured fibroblasts from patients either with various forms of sialidosis or with I-cell disease (ICD) or mucolipidosis (ML) III has been determined by both a colorimetric and a fluorometric method. The former applied to frozen fibroblast pellets demonstrated a specific deficiency of neuraminidase in patients with the ...
W R, Den Tandt, J G, Leroy
openaire   +2 more sources

Hypersialyloligosacchariduria in mucolipidoses: A method for diagnosis

Clinica Chimica Acta, 1978
A method is described for the detection of abnormal oligosaccharides in a small (5 ml) volume of urine, employing filtration on a Bio Gel P-6 column, determination of neutral sugar and bound sialic acid, and determination of creatinine content. With this method increased urinary excretion of sialic acid-rich oligosaccharides has been detected in nine ...
S, Okada, T, Kato, S, Miura, H, Yabuuchi, M, Nishigaki, A, Kobata, H, Chiyo, J I, Furuyama   +7 more
openaire   +2 more sources

The Mucopolysaccharidoses and Mucolipidoses

Clinical Orthopaedics and Related Research, 1976
The mucopolysaccharidoses and mucolipidoses are recessively inherited lysosomal storage diseases. Each of the disorders can now be specifically identified in cultured fibroblasts. As a group these disorders clinically present with a Hurler-like phenotype.
openaire   +2 more sources

Osteochondrodysplasias, Dysostoses, Chromosomal Aberrations, Mucopolysaccharidoses, and Mucolipidoses

, 2005
William H. McAlister, Thomas E. Herman
openaire   +2 more sources

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

Journal of Inherited Metabolic Disease, 2004
SummaryGlycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II and ML III patients cannot properly degrade heparan sulphate (HS). In spite of the importance of HS storage in the metabolic pathway in these diseases, blood and urine HS levels have not been determined systematically ...
S, Tomatsu, M A, Gutierrez, T, Ishimaru, O M, Peña, A M, Montaño, H, Maeda, S, Velez-Castrillon, T, Nishioka, A A, Fachel, A, Cooper, M, Thornley, E, Wraith, L A, Barrera, L S, Laybauer, R, Giugliani, I V, Schwartz, G Schulze, Frenking, M, Beck, S G, Kircher, E, Paschke, S, Yamaguchi, K, Ullrich, K, Isogai, Y, Suzuki, T, Orii, A, Noguchi   +25 more
openaire   +2 more sources

Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses

Annals of Human Genetics, 1981
SUMMARYTen enzymes, all known to be glycoproteins, were examined by electrophoresis or gel isoelectric focusing in 12 different patients with primary or secondary sialidase deficiency. Aberrant electrophoretic mobilities of many of the enzymes attributable to abnormal sialylation were found in all the patients.
D M, Swallow, J S, O'Brien, A T, Hoogeveen, D W, Buck   +3 more
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The mucolipidoses: Identification by abnormal electrophoretic patterns of lysosomal hydrolases

American Journal of Medical Genetics, 1981
AbstractThe human mucolipidoses (ML) are characterized by abnormal activities and abnormal electrophoretic patterns of fibroblast lysosomal hydrolases. These altered mobility patterns can be used to confirm the clinical diagnosis of the four mucolipidoses.
N. K. Honey, A. L. Miller, T. B. Shows, John M. Opitz   +3 more
openaire   +2 more sources