Literature DB >> 12637289

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Cecilia Parazzini1, Saverio Arena, Lucrezia Marchetti, Francesca Menni, Mirella Filocamo, Frans W Verheijen, Grazia M S Mancini, Fabio Triulzi, Rossella Parini.   

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Year:  2003        PMID： 12637289      PMCID： PMC7973609     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


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  6 in total

1.  A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Authors:  F W Verheijen; E Verbeek; N Aula; C E Beerens; A C Havelaar; M Joosse; L Peltonen; P Aula; H Galjaard; P J van der Spek; G M Mancini
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

2.  Infantile sialic acid storage disease: biochemical studies.

Authors:  B Berra; R Gornati; S Rapelli; R Gatti; G M Mancini; G Ciana; B Bembi
Journal:  Am J Med Genet       Date:  1995-07-31

3.  Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Authors:  G M Mancini; C E Beerens; P P Aula; F W Verheijen
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

Review 4.  Clinical spectrum of infantile free sialic acid storage disease.

Authors:  E Lemyre; P Russo; S B Melançon; R Gagné; M Potier; M Lambert
Journal:  Am J Med Genet       Date:  1999-02-19

5.  The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Authors:  L Haataja; J Schleutker; A P Laine; M Renlund; M L Savontaus; C Dib; J Weissenbach; L Peltonen; P Aula
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

Review 6.  Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.

Authors:  L P Hale; C J van de Ven; D A Wenger; W D Bradford; S G Kahler
Journal:  Pediatr Pathol Lab Med       Date:  1995 May-Jun
  6 in total
  5 in total

Review 1.  Molecular physiology and pathophysiology of lysosomal membrane transporters.

Authors:  C Sagné; B Gasnier
Journal:  J Inherit Metab Dis       Date:  2008-04-15       Impact factor: 4.982

2.  Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Authors:  R Froissart; D Cheillan; R Bouvier; S Tourret; V Bonnet; M Piraud; I Maire
Journal:  J Med Genet       Date:  2005-04-01       Impact factor: 6.318

Review 3.  Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.

Authors:  Taina Autti; Raimo Joensuu; Laura Aberg
Journal:  Neuroradiology       Date:  2007-03-03       Impact factor: 2.804

Review 4.  Free sialic acid storage disorder: Progress and promise.

Authors:  Marjan Huizing; Mary E Hackbarth; David R Adams; Melissa Wasserstein; Marc C Patterson; Steven U Walkley; William A Gahl
Journal:  Neurosci Lett       Date:  2021-04-20       Impact factor: 3.046

5.  Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Authors:  R Biancheri; A Rossi; H A Verbeek; R Schot; F Corsolini; S Assereto; G M S Mancini; F W Verheijen; C Minetti; M Filocamo
Journal:  Neurogenetics       Date:  2005-09-17       Impact factor: 2.660
  5 in total

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