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Literature DB >> 6807676

Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.

R Gatti, C Borrone, P Durand, S De Virgilis, G Sanna, A Cao, K von Figura, H Kresse, E Paschke.

Abstract

Entities: Disease Species

Mesh：

Substances：

Year: 1982 PMID： 6807676 DOI： 10.1007/BF00441147

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

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12 in total

1. [MORQUIO'S DISEASE. CLINICAL, RADIOLOGICAL AND BIOLOGICAL STUDY].

Authors: P MAROTEAUX; M LAMY; M FOUCHER
Journal: Presse Med Date: 1963-10-23 Impact factor: 1.228

2. N-acetylglucosamine-6-sulfate sulfatase in man: deficiency of the enzyme in a new mucopolysaccharidosis.

Authors: L C Ginsberg; P V Donnelly; D T Di Ferrante; N Di Ferrante; C T Caskey
Journal: Pediatr Res Date: 1978-07 Impact factor: 3.756

3. The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.

Authors: K von Figura; H Kresse
Journal: Biochem Biophys Res Commun Date: 1972-07-25 Impact factor: 3.575

4. The Sanfilippo A corrective factor. Purification and mode of action.

Authors: H Kresse; E F Neufeld
Journal: J Biol Chem Date: 1972-04-10 Impact factor: 5.157

5. N-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered.

Authors: N Di Ferrante
Journal: Science Date: 1980-10 Impact factor: 47.728

6. Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver.

Authors: R Matalon; A Dorfman
Journal: J Clin Invest Date: 1974-10 Impact factor: 14.808

7. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

Authors: U Klein; H Kresse; K von Figura
Journal: Proc Natl Acad Sci U S A Date: 1978-10 Impact factor: 11.205

8. Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.

Authors: J S O'Brien
Journal: Proc Natl Acad Sci U S A Date: 1972-07 Impact factor: 11.205

9. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).

Authors: J J van de Kamp; M F Niermeijer; K von Figura; M A Giesberts
Journal: Clin Genet Date: 1981-08 Impact factor: 4.438

10. Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.

Authors: H Kresse; E Paschke; K von Figura; W Gilberg; W Fuchs
Journal: Proc Natl Acad Sci U S A Date: 1980-11 Impact factor: 11.205

6 in total

1. 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

2. 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