Literature DB >> 5658957

[Description of a new type of melituria, called sialuria].

J Montreuil, G Biserte, G Strecker, G Spik, G Fontaine, J P Farriaux.   

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Year:  1968        PMID： 5658957     DOI： 10.1016/0009-8981(68)90011-9

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  14 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: 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

4.  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

5.  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

Review 6.  Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Authors:  Monique Piraud; Magali Pettazzoni; Pamela Lavoie; Séverine Ruet; Cécile Pagan; David Cheillan; Philippe Latour; Christine Vianey-Saban; Christiane Auray-Blais; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2018-03-19       Impact factor: 4.982

7.  Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.

Authors:  M Renlund; P T Kovanen; K O Raivio; P Aula; C G Gahmberg; C Ehnholm
Journal:  J Clin Invest       Date:  1986-02       Impact factor: 14.808

8.  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 9.  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

10.  Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families.

Authors:  P R Clements; J A Taylor; J J Hopwood
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982
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