Literature DB >> 1640438

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

J Zaremba1, W J Kleijer, J G Huijmans, B Poorthuis, E Fidzianska, I Glogowska.   

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Year:  1992        PMID： 1640438      PMCID： PMC1016036     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  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

2.  The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity.

Authors:  J J Hopwood; H Elliott
Journal:  Clin Chim Acta       Date:  1981-04-27       Impact factor: 3.786
  2 in total
  3 in total

1.  Second trimester prenatal diagnosis of Sanfilippo syndrome type C.

Authors:  I Maire; S Epelbaum; M Piraud; G Mandon; R Dumoulin; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.

Authors:  Volkan Seyrantepe; Frédérique Tihy; Alexey V Pshezhetsky
Journal:  Hum Genet       Date:  2006-06-17       Impact factor: 4.132

3.  Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Authors:  Martin Hrebícek; Lenka Mrázová; Volkan Seyrantepe; Stéphanie Durand; Nicole M Roslin; Lenka Nosková; Hana Hartmannová; Robert Ivánek; Alena Cízkova; Helena Poupetová; Jakub Sikora; Jana Urinovská; Viktor Stranecký; Jirí Zeman; Pierre Lepage; David Roquis; Andrei Verner; Jérome Ausseil; Clare E Beesley; Irène Maire; Ben J H M Poorthuis; Jiddeke van de Kamp; Otto P van Diggelen; Ron A Wevers; Thomas J Hudson; T Mary Fujiwara; Jacek Majewski; Kenneth Morgan; Stanislav Kmoch; Alexey V Pshezhetsky
Journal:  Am J Hum Genet       Date:  2006-09-08       Impact factor: 11.025
  3 in total

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