Literature DB >> 7609458

Second trimester prenatal diagnosis of Sanfilippo syndrome type C.

I Maire1, S Epelbaum, M Piraud, G Mandon, R Dumoulin, M Mathieu.   

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Year:  1993        PMID： 7609458     DOI： 10.1007/BF00711688

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.

Authors:  J Zaremba; W J Kleijer; J G Huijmans; B Poorthuis; E Fidzianska; I Glogowska
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  Sanfilippo disease, type C: three cases in the same family.

Authors:  I Turki; H Kresse; J Scotto; M Tardieu
Journal:  Neuropediatrics       Date:  1989-05       Impact factor: 1.947

3.  Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.

Authors:  R Pallini; I G Leder; P di Natale
Journal:  Pediatr Res       Date:  1984-06       Impact factor: 3.756

4.  Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.

Authors:  A C Sewell; B F Pontz; G Benischek
Journal:  Clin Genet       Date:  1988-08       Impact factor: 4.438

5.  First-trimester prenatal diagnosis of Sanfilippo C disease.

Authors:  P Di Natale; N Pannone; G D'Argenio; R Gatti; R Ricci; C Lombardo
Journal:  Prenat Diagn       Date:  1987-10       Impact factor: 3.050
  5 in total

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