Literature DB >> 5678410

[Sialuria: an original metabolic disorder].

G Fontaine, G Biserte, J Montreuil, A Dupont, J P Farriaux.   

Abstract

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Year:  1968        PMID： 5678410

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


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  10 in total

1.  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

2.  Sialuria: a second case.

Authors:  B Wilcken; N Don; R Greenaway; J Hammond; L Sosula
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  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

4.  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

5.  The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts.

Authors:  E Paschke; G Höfler; A Roscher
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

6.  N-Acetylneuraminic acid storage disease.

Authors:  J Baumkötter; M Cantz; K Mendla; W Baumann; H Friebolin; J Gehler; J Spranger
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

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

Review 8.  Neuropathology of Salla disease.

Authors:  H Autio-Harmainen; A Oldfors; P Sourander; M Renlund; K Dammert; S Similä
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

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
  10 in total

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