Literature DB >> 57494

Letter: Aspartylglycosaminuria in Northern Norway.

O Borud, K H Torp.   

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Year:  1976        PMID： 57494     DOI： 10.1016/s0140-6736(76)92266-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

1.  Spectrum of mutations in aspartylglucosaminuria.

Authors:  E Ikonen; P Aula; K Grön; O Tollersrud; R Halila; T Manninen; A C Syvänen; L Peltonen
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-15       Impact factor: 11.205

2.  Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.

Authors:  O Borud; J H Strömme; S O Lie; K H Torp
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

3.  Purification and structure of human liver aspartylglucosaminidase.

Authors:  J W Rip; M B Coulter-Mackie; C A Rupar; B A Gordon
Journal:  Biochem J       Date:  1992-12-15       Impact factor: 3.857

4.  Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.

Authors:  O K Tollersrud; O Nilssen; L Tranebjaerg; O Borud
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

5.  Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Authors:  E Ikonen; M Baumann; K Grön; A C Syvänen; N Enomaa; R Halila; P Aula; L Peltonen
Journal:  EMBO J       Date:  1991-01       Impact factor: 11.598

Review 6.  Aspartylglycosaminuria: a review.

Authors:  Maria Arvio; Ilkka Mononen
Journal:  Orphanet J Rare Dis       Date:  2016-12-01       Impact factor: 4.123
  6 in total

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