Literature DB >> 4269738

Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families.

K von Figura, M Lögering, G Mersmann, H Kresse.   

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Year:  1973        PMID： 4269738     DOI： 10.1016/s0022-3476(73)80222-7

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


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  6 in total

1.  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

2.  The mucopolysaccharidoses.

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

3.  Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts.

Authors:  K von Figura; H Kresse
Journal:  J Clin Invest       Date:  1974-01       Impact factor: 14.808

4.  Prenatal diagnosis of Sanfilippo disease type B.

Authors:  W J Kleijer; J G Huijmans; W Blom; D Gorska; J Kubalska; M Walasek; J Zaremba
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

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

6.  Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy.

Authors:  A Federico; G Capece; A Cecio; N D'Auria; G Di Iorio; L Ronsisvalle; P Di Natale
Journal:  J Neurol       Date:  1981       Impact factor: 4.849
  6 in total

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