Literature DB >> 3100754

Sanfilippo syndrome type D.

P Kaplan, L S Wolfe.   

Abstract

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Year:  1987        PMID： 3100754     DOI： 10.1016/s0022-3476(87)80171-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  5 in total

1.  Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.

Authors:  A Hinek; S E Wilson
Journal:  Am J Pathol       Date:  2000-03       Impact factor: 4.307

2.  Sanfilippo syndrome type D in two adolescent sisters.

Authors:  L Siciliano; A Fiumara; L Pavone; C Freeman; D Robertson; C P Morris; J J Hopwood; P Di Natale; S Musumeci; A L Horwitz
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

4.  Human glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates.

Authors:  C Freeman; J J Hopwood
Journal:  Biochem J       Date:  1992-03-01       Impact factor: 3.857

5.  A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID).

Authors:  W He; A M Boer; W J Kleijer; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  5 in total

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