Literature DB >> 2443758

Sialuria: a second case.

B Wilcken1, N Don, R Greenaway, J Hammond, L Sosula.   

Abstract

A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.

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Year:  1987        PMID： 2443758     DOI： 10.1007/bf01800030

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


  10 in total

1.  Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.

Authors:  R Humbel; M Collart
Journal:  Clin Chim Acta       Date:  1975-04-16       Impact factor: 3.786

2.  [Sialuria: an original metabolic disorder].

Authors:  G Fontaine; G Biserte; J Montreuil; A Dupont; J P Farriaux
Journal:  Helv Paediatr Acta       Date:  1968

3.  An improved thin-layer chromatographic method for urinary oligosaccharide screening.

Authors:  A C Sewell
Journal:  Clin Chim Acta       Date:  1979-03-15       Impact factor: 3.786

4.  Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

Authors:  M Renlund; P Aula; K O Raivio; S Autio; K Sainio; J Rapola; S L Koskela
Journal:  Neurology       Date:  1983-01       Impact factor: 9.910

5.  "Salla disease": a new lysosomal storage disorder.

Authors:  P Aula; S Autio; K O Raivio; J Rapola; C J Thodén; S L Koskela; I Yamashina
Journal:  Arch Neurol       Date:  1979-02

6.  Clinical and laboratory diagnosis of Salla disease in infancy and childhood.

Authors:  M Renlund
Journal:  J Pediatr       Date:  1984-02       Impact factor: 4.406

7.  Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.

Authors:  M Tondeur; J Libert; E Vamos; F Van Hoof; G H Thomas; G Strecker
Journal:  Eur J Pediatr       Date:  1982-10       Impact factor: 3.183

8.  Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

Authors:  R E Stevenson; M Lubinsky; H A Taylor; D A Wenger; R J Schroer; P M Olmstead
Journal:  Pediatrics       Date:  1983-10       Impact factor: 7.124

9.  Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

Authors:  G H Thomas; L W Reynolds; C S Miller
Journal:  Pediatr Res       Date:  1985-05       Impact factor: 3.756

10.  Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.

Authors:  L W Hancock; M M Thaler; A L Horwitz; G Dawson
Journal:  J Neurochem       Date:  1982-03       Impact factor: 5.372
  10 in total
  12 in total

1.  Sialylation is essential for early development in mice.

Authors:  Martina Schwarzkopf; Klaus-Peter Knobeloch; Elvira Rohde; Stephan Hinderlich; Nicola Wiechens; Lothar Lucka; Ivan Horak; Werner Reutter; Rüdiger Horstkorte
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-02       Impact factor: 11.205

2.  Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Authors:  J G Leroy; R Seppala; M Huizing; G Dacremont; H De Simpel; R N Van Coster; E Orvisky; D M Krasnewich; W A Gahl
Journal:  Am J Hum Genet       Date:  2001-04-18       Impact factor: 11.025

3.  Sialuria: a follow-up report.

Authors:  N A Don; B Wilcken
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

4.  Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.

Authors:  Noelia Nunez Martinez; Michelle Lipke; Jacqueline Robinson; Bridget Wilcken
Journal:  JIMD Rep       Date:  2018-06-20

5.  Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

Authors:  R Seppala; V P Lehto; W A Gahl
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

6.  Clinical course and biochemistry of sialuria.

Authors:  G M Enns; R Seppala; T J Musci; K Weisiger; L D Ferrell; D A Wenger; W A Gahl; S Packman
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

7.  Therapeutic Monosaccharides: Looking Back, Moving Forward.

Authors:  Paulina Sosicka; Bobby G Ng; Hudson H Freeze
Journal:  Biochemistry       Date:  2019-08-22       Impact factor: 3.162

8.  Sialic acid storage disease.

Authors:  P D Cameron; V Dubowitz; G T Besley; A H Fensom
Journal:  Arch Dis Child       Date:  1990-03       Impact factor: 3.791

9.  New observation of sialuria prompts detection of liver tumor in previously reported patient.

Authors:  Neena L Champaigne; Jules G Leroy; Priya S Kishnani; Jochen Decaestecker; Edwin Steenkiste; Alka Chaubey; Jiarui Li; Chris Verslype; Jo Van Dorpe; Laura Pollard; Jennifer L Goldstein; Louis Libbrecht; Monica Basehore; Nansheng Chen; Heping Hu; Tim Wood; Michael J Friez; Marjan Huizing; Roger E Stevenson
Journal:  Mol Genet Metab       Date:  2016-04-16       Impact factor: 4.797

Review 10.  UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Authors:  Stephan Hinderlich; Wenke Weidemann; Tal Yardeni; Rüdiger Horstkorte; Marjan Huizing
Journal:  Top Curr Chem       Date:  2015
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