Genetic heterogeneity in multiple lysosomal hydrolase deficiency

scientific article published on 01 August 1974

Genetic heterogeneity in multiple lysosomal hydrolase deficiency is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/S0022-3476(74)80391-4
P698PubMed publication ID4276418

P50authorWilliam H. McAlisterQ117472672
P2093author name stringW S Sly
J H Glaser
P2860cites workFunctions of lysosomesQ29614182
The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradationQ33818834
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosisQ34205101
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidaseQ34719775
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomesQ41511911
I-cell disease: multiple lysosomal-enzyme defectQ43953122
I-cell disease: biochemical studiesQ48724806
Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.Q51122559
A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.Q54192653
Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells.Q54561933
I-cell disease: a clinical picture.Q54775428
Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cellsQ67263294
The genetic mucolipidoses. Diagnosis and differential diagnosisQ68456267
Letter: Screening for mucolipidosisQ70003103
Mutant enzymatic and cytological phenotypes in cultured human fibroblastsQ81218399
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectheterogeneityQ928498
P304page(s)192-198
P577publication date1974-08-01
P1433published inThe Journal of PediatricsQ7743611
P1476titleGenetic heterogeneity in multiple lysosomal hydrolase deficiency
P478volume85

Reverse relations

cites work (P2860)
Q3871957746 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders
Q41328013A new variant mucolipidosis: Biochemical investigations on two siblings
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Q28119032Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts
Q41761966Effects of di-isopropyl phosphorofluoridate on rat liver microsomal and lysosomal beta-glucuronidase
Q35202009Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines
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Q42953094Granzymes A and B are targeted to the lytic granules of lymphocytes by the mannose-6-phosphate receptor
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Q69426514Selective presence of acid hydrolases in the interphotoreceptor matrix
Q67439698The acro-osteolysis syndrome: Morphologic and biochemical studies
Q40326866The missing link in lysosomal enzyme targeting
Q39246351Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III