Skip to search formSkip to main contentSkip to account menu

Mucolipidoses

Known as: Mucolipidosis, Sialidosis, Mucolipidoses [Disease/Finding] 
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or… 
National Institutes of Health

Related topics

Related topics

16 relations
GangliosidosesIn BloodMicrobiologicalchemically induced

Narrower (9)

LipomucopolysaccharidosisMicrovillus inclusion diseaseMucolipidosis III GammaMucolipidosis Type IV

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Comparative Pathology of Murine Mucolipidosis Types II and IIIC
UDP-GlcNAc: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase) is an α2β2γ2 hexameric enzyme… 
Highly Cited
1985
Highly Cited
1985
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
Using electron microscopic immunocytochemistry with gold probes, we have studied the localization of acid alpha-glucosidase, N… 
Highly Cited
1981
Highly Cited
1981
Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
Fibroblasts from patients with I-cell disease (mucolipidosis II) or with pseudo Hurler polydystrophy (mucolipidosis III) are… 
Highly Cited
1980
Highly Cited
1980
A severe infantile sialidosis: clinical, biochemical, and microscopic features.
Highly Cited
1978
Highly Cited
1978
360-MHz 1H nuclear-magnetic-resonance spectroscopy of sialyl-oligosaccharides from patients with sialidosis (mucolipidosis I and II).
360-MHz proton nuclear magnetic resonance spectra were recorded of 10 sialyl-oligosaccharides isolated from urine of sialidosis… 
Highly Cited
1977
Highly Cited
1977
Sialidosis (mucolipidosis I).
The term "sialidosis" is suggested for the deficiency of alpha-neuraminidase activity in peripheral leukocytes and cultured… 
1976
1976
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease).
Using a tritiated sialyloligosaccharide as a substrate, the authors showed that mucolipidosis II is characterized by a lack of… 
Highly Cited
1975
Highly Cited
1975
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II).
Highly Cited
1973
Highly Cited
1973
Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells
Extract: Four patients with the clinical findings of mucolipidosis III were studied. Cultured skin fibroblast cells from three of… 
Highly Cited
1972
Highly Cited
1972
A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.
Clinical, biochemical and electron microscopic studies on a patient of a new type of mucolipidosis are described. The patient is… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)