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Literature DB >> 6411475

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.

G V Coppa, P L Giorgi, L Felici, O Gabrielli, E Donti, S Bernasconi, H Kresse, E Paschke, C Mastropaolo.

Abstract

Clinical, radiological and biochemical findings of two new cases of Sanfilippo disease, type D are reported. A high percentage of heparan sulfate was found in the urinary glycosaminoglycan pattern and a severe deficiency of N-acetylglucosamine-6-sulfate sulfatase was demonstrated in skin cultured fibroblasts from the patients. One of the patients presented mild intellectual impairment which differentiates him from the other cases described to date.

Entities: Chemical Disease Species

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Year: 1983 PMID： 6411475 DOI： 10.1007/BF00441662

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

13 in total

1. 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

2. 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

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

Authors: R Gatti; C Borrone; P Durand; S De Virgilis; G Sanna; A Cao; K von Figura; H Kresse; E Paschke
Journal: Eur J Pediatr Date: 1982-03 Impact factor: 3.183

4. 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

5. 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

6. Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II).

Authors: G D Vladutiu; M C Rattazzi
Journal: Biochem Biophys Res Commun Date: 1975-12-01 Impact factor: 3.575

7. Undersulfated urinary glycosaminoglycans in preterm newborns.

Authors: G V Coppa; O Gabrielli; A Maiorana; S Sani; A Benincasa; M Belsito; U Montali
Journal: Biol Neonate Date: 1978

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. Keratan and herparan sulfaturia: glucosamine-6-sulfate deficiency.

Authors: R Matalon; R Wappner; M Deanching; I K Brandt; A Horwitz
Journal: Ann Clin Lab Sci Date: 1982 May-Jun Impact factor: 1.256

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