Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy

scientific article

Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JMG.18.3.237
P932PMC publication ID1048714
P698PubMed publication ID6787203
P5875ResearchGate publication ID16412214

P2093author name stringJones KL
O'Brien JS
Hoyme HE
Higginbottom MC
P2860cites workBeta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosisQ34205101
Beta-glucuronidase deficiency in a girl with unusual clinical featuresQ39831425
Mucopolysaccharidosis. VII. Beta-glucuronidase deficiencyQ45083643
I-cell disease: biochemical studiesQ48724806
Variation in the phenotypic expression of beta-glucuronidase deficiencyQ67506997
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)237-239
P577publication date1981-06-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titlePresentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy
P478volume18

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cites work (P2860)
Q35811330A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice
Q24658556Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Q36395552Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?
Q37401176Lysosomal storage disorders in the newborn
Q24676351Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
Q70934300Morphological alterations in dental and periodontal tissues in murine mucopolysaccharidosis type VII
Q71620379Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis
Q33628587Phenotypic expression in mucopolysaccharidosis VII.

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