Literature DB >> 4606247

Aspartylglycosaminuria. Analysis of thirty-four patients.

S Autio.   

Abstract

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Year:  1972        PMID： 4606247

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


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  14 in total

1.  Aspartylglycosaminuria: a generalized storage disease. Morphological and histochemical studies.

Authors:  M Haltia; J Palo; S Autio
Journal:  Acta Neuropathol       Date:  1975       Impact factor: 17.088

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.  Metabolism of collagen in aspartylglycosaminuria: urinary excretion of hydroxyproline.

Authors:  K Näntö-Salonen; S Autio; E Härö; T Kivimäki; S L Koskela; V Näntö; R Penttinen
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts.

Authors:  P Aula; S Autio; K Raivio; V Näntö
Journal:  Humangenetik       Date:  1974

5.  Metabolism of collagen in aspartylglycosaminuria: decreased synthesis by cultured fibroblasts.

Authors:  K Näntö-Salonen; R Penttinen
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

Review 6.  Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.

Authors:  C P Maury
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

7.  Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

Authors:  H Park; M Rossiter; A H Fensom; B Winchester; N N Aronson
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

8.  Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.

Authors:  J Gehler; A C Sewell; C Becker; J Spranger; J Hartmann
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

9.  High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.

Authors:  T Mononen; I Mononen; R Matilainen; E Airaksinen
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

10.  Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria.

Authors:  Ayşe Kartal; Kürşad Aydın
Journal:  Neuroradiol J       Date:  2016-08-22
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