Literature DB >> 1779656

Sialuria: a follow-up report.

N A Don1, B Wilcken.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1779656     DOI： 10.1007/bf01800480

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


× No keyword cloud information.
  1 in total

1.  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
  1 in total
  4 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: 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

3.  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

4.  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 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.