Literature DB >> 4201808

Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.

H Kresse.   

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Year:  1973        PMID： 4201808     DOI： 10.1016/0006-291x(73)90807-3

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  31 in total

1.  Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cells.

Authors:  J Butterworth
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

Review 2.  Replacement therapy in the mucopolysaccharidoses.

Authors:  M F Dean
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1978

3.  Carrier detection for Sanfilippo A syndrome.

Authors:  J Stone; A Brimble; C A Pennock
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

5.  A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

Authors:  C A Pennock
Journal:  J Clin Pathol       Date:  1976-02       Impact factor: 3.411

6.  The mucopolysaccharidoses.

Authors:  C A Pennock; I C Barnes
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

7.  Sanfilippo A disease in the fetus.

Authors:  P S Harper; K M Laurence; A Parkes; F S Wusteman; H Kresse; K von Figura; M A Ferguson-Smith; D M Duncan; R W Logan; F Hall; P Whiteman
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

Review 8.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

9.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

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

Authors:  G V Coppa; P L Giorgi; L Felici; O Gabrielli; E Donti; S Bernasconi; H Kresse; E Paschke; C Mastropaolo
Journal:  Eur J Pediatr       Date:  1983-04       Impact factor: 3.183
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