Acid acylhydrolase deficiency in I-cell disease and pseudo-hurler polydystrophy

scientific article published on December 18, 1979

Acid acylhydrolase deficiency in I-cell disease and pseudo-hurler polydystrophy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/0005-2760(79)90109-7
P953full work available at URLhttps://api.elsevier.com/content/article/PII:0005276079901097?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:0005276079901097?httpAccept=text/xml
P698PubMed publication ID42439

P2093author name stringA. L. Miller
J. C. Williams
D. Steinberg
R. C. Pittman
P2860cites workBiochemical JournalQ864221
The New England Journal of MedicineQ582728
Protein measurement with the Folin phenol reagentQ20900776
A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATIONQ25939000
Enzyme deficiency in cholesteryl ester storage idiseaseQ34072516
The Low-Density Lipoprotein Pathway and its Relation to AtherosclerosisQ37605132
I-cell disease (mucolipidosis II):a report on its pathologyQ39079635
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblastsQ39399194
Activatable cholesterol esterase and triacylglycerol lipase activities of rat adrenal and their relationshipQ39443918
Uptake and degradation of low density lipoprotein by swine arterial smooth muscle cells with inhibition of cholesterol biosynthesisQ39983246
Inherited disorders of lysosomal metabolismQ40690248
Mucolipidosis II and III: different residual activity of beta‐galactosidase in cultured fibroblasts*Q41077894
I-cell disease: Isoelectric focusing, concanavalin asepharose 4B binding and kinetic properties of human lier acid β-d-galactosidasesQ41352808
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomesQ41511911
The role of glycosidically bound mannose in the assimilation of beta-galactosidase by generalized gangliosidosis fibroblastsQ46158124
I-cell disease: biochemical studiesQ48724806
Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.Q51122559
Deficiency of an Acid Lipase in Wolman's DiseaseQ59053697
I-cell disease: activities of lysosomal enzymes toward natural and synthetic substratesQ67525636
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblastsQ67546931
Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblastsQ67710488
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblastsQ68684301
I-Cell DiseaseQ70135498
Deficient activity of hepatic acid lipase in cholesterol ester storage diseaseQ70356542
Mutant enzymatic and cytological phenotypes in cultured human fibroblastsQ81218399
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectbiochemistryQ7094
biophysicsQ7100
endocrinologyQ162606
P304page(s)399-409
P577publication date1979-12-01
1979-12-18
P1433published inBiochimica et Biophysica ActaQ864239
P1476titleAcid acylhydrolase deficiency in I-cell disease and pseudo-hurler polydystrophy
Acid acylhydrolase deficiency in I-cell disease and pseudo-Hurler polydystrophy
P478volume575

Reverse relations

cites work (P2860)
Q70958739Assignment ofLIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19
Q35200444Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency
Q41903693Defective catabolism of low-density lipoprotein by fibroblasts from patients with I-cell disease
Q72948345Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants
Q99590892Mucolipidoses Overview: Past, Present, and Future
Q36324168Mucolipidosis III is genetically heterogeneous
Q70875629Properties of N-acetyl-beta-D-hexosaminidase from isolated normal and I-cell lysosomes

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