Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

scientific article published in July 1974

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF00282212
P698PubMed publication ID4277583

P2093author name stringJ Spranger
M Cantz
M Tolksdorf
E Gilbert
J Gehler
H Drube
P2860cites workProtein measurement with the Folin phenol reagentQ20900776
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosisQ34205101
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patientsQ34713487
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidaseQ34719775
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfataseQ35108896
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharideQ36474987
Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions.Q50981647
The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.Q54119498
A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.Q54192653
Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.Q54398794
Biochemical definition of the mucopolysaccharidosesQ68452905
Hurler's syndrome, an -L-iduronidase deficiencyQ68491649
[Type II mucolipidosis (I-cell disease)]Q68708809
Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous bloodQ72197085
The determination of acid aminopolysaccharide in urineQ74256622
The assay of arylsulphatases A and B in human urineQ78694080
The determination of chondroitin sulfate C-type polysaccharides in mixture with other acid mucopolysaccharidesQ79006406
A new specific color reaction of hexuronic acidsQ83314269
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectmucopolysaccharidosisQ1479681
P304page(s)149-158
P577publication date1974-07-01
P1433published inHumangenetikQ27711177
P1476titleMucopolysaccharidosis. VII. Beta-glucuronidase deficiency
P478volume23

Reverse relations

cites work (P2860)
Q35811330A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice
Q73398422A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis
Q52103041Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.
Q39831425Beta-glucuronidase deficiency in a girl with unusual clinical features
Q71578961Beta-glucuronidase deficiency: enzyme studies in an affected family and prenatal diagnosis
Q24658556Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Q70366467Clinical heterogeneity in infantile galactosialidosis
Q39888186Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism
Q35037170Detection of active heteropolymeric beta-glucuronidase in hybrids between mouse cells and human fibroblasts with beta-glucuronidase deficiency
Q39664206Glycosaminoglycan accumulation with partial deficiency of ?-glucuronidase in the C3H strain of mice
Q24634014Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay
Q45552423Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.
Q52097082Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?
Q67836143Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII
Q24676351Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
Q66841184Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum
Q24626591Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency
Q72834626Neuraminidase deficiency presenting as non-immune hydrops fetalis
Q44567585Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria
Q66925043Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation
Q33628587Phenotypic expression in mucopolysaccharidosis VII.
Q67522517Prenatal diagnosis of mucolipidosis II (I-cell disease)
Q33668737Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy
Q35201546The human gene for beta glucuronidase is on chromosome 7.
Q35986296The mucopolysaccharidoses (a review).
Q28610244The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism
Q70485431The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood
Q70048452Urinary screening for disorders of heteroglycan metabolism. Results of 10 years experience with a comprehensive system

Search more.