scholarly article | Q13442814 |
P356 | DOI | 10.1002/ANA.410060310 |
P953 | full work available at URL | https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.410060310 |
https://onlinelibrary.wiley.com/doi/full/10.1002/ana.410060310 | ||
P698 | PubMed publication ID | 534422 |
P2093 | author name string | Mizuno Y | |
Yamada T | |||
Atsumi T | |||
Miyatake T | |||
Ando S | |||
Ariga T | |||
Obayashi T | |||
Matsui-Nakamura K | |||
P2860 | cites work | Protein measurement with the Folin phenol reagent | Q20900776 |
Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome | Q24563059 | ||
Acta neurologica | Q27708746 | ||
Acta Pathologica Japonica | Q27708777 | ||
The Japanese Journal of Experimental Medicine | Q27711802 | ||
Pathologia Europaea | Q27712568 | ||
Determination of sialidase activities in HeLa cells using gangliosides specifically labeled in N-acetylneuraminic acid | Q39163319 | ||
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts | Q39399194 | ||
Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies | Q39605242 | ||
High-performance thin-layer chromatography and densitometric determination of brain ganglioside compositions of several species | Q39637990 | ||
Chloride ions cancel out inhibition of β-galactosidase activity by acid mucopolyaccharides | Q39727966 | ||
beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature | Q39861268 | ||
The use of white cells as a source of diagnostic material for lipid storage diseases | Q39982655 | ||
The cherry-red spot-myoclonus syndrome | Q40156522 | ||
Macular cherry-red spots and beta-galactosidase deficiency in an adult. An autopsy case with progressive cerebellar ataxia, myoclonus, thrombocytopathy, and accumulation of polysaccharide in liver | Q41234663 | ||
Application of Trifluoroacetyl Derivatives to Sugar and Lipid Chemistry: I. Gas Chromatographic Analysis of Common Constituents of Glycolipids | Q44347352 | ||
GM3 (hematoside) sphingolipodystrophy | Q44451966 | ||
Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis | Q44537741 | ||
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia | Q44975342 | ||
The abnormalities of lysosomal enzymes in mucopolysacc- haridoses | Q49126653 | ||
Application of the isotope dilution method to microanalytical determination of five classes of sphingoglycolipids in tissues. I. Preparation and properties of tritium labelled sphingoglycolipids | Q49144695 | ||
STRUCTURE COMPARISON OF THE MAJOR MONOSIALOGANGLIOSIDES FROM BRAINS OF NORMAL HUMAN, GARGOYLISM, AND LATE INFANTILE SYSTEMIC LIPIDOSIS. I | Q51253083 | ||
ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM | Q51253287 | ||
ELECTRON MICROSCOPY OF TWO CEREBRAL BIOPSIES IN GARGOYLISM | Q51253290 | ||
Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease | Q52111246 | ||
In vitro restoration of deficient beta-galactosidase activity in liver of patients with Hurler and Hunter disease. | Q53768413 | ||
Acid hydrolases in skin and plasma in gargoylism. Deficiency of beta-galactosidase in skin. | Q53871237 | ||
Neuraminidase deficiency in the cherry red spot-myoclonus syndrome | Q67060032 | ||
Sialidase deficiency in adult-type neuronal storage disease | Q67468314 | ||
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts | Q67546931 | ||
Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis | Q67825656 | ||
Mucopolysaccharides from chicken skin of three age groups | Q68487521 | ||
A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria | Q68501239 | ||
Urinary excretion of acidic glycosaminoglycans in the aged | Q68512456 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | neurology | Q83042 |
sialidosis type 2 | Q92306977 | ||
P304 | page(s) | 232-244 | |
P577 | publication date | 1979-09-01 | |
P1433 | published in | Annals of Neurology | Q564414 |
P1476 | title | Adult type neuronal storage disease with neuraminidase deficiency | |
P478 | volume | 6 |