Literature DB >> 4765214

Aspartylglucosaminuria: deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents.

P Aula, V Näntö, M L Laipio, S Autio.   

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Year:  1973        PMID: 4765214     DOI: 10.1111/j.1399-0004.1973.tb01161.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  8 in total

Review 1.  The salience of Garrod's 'molecular groupings' and 'Inborn Factors in Disease'.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

2.  Purification and some properties of 1-aspartamido-beta-N-acetylglucosamine amidohydrolase from human liver.

Authors:  B Dugal; J Stromme
Journal:  Biochem J       Date:  1977-09-01       Impact factor: 3.857

3.  Glycopeptide storage in skin fibroblasts cultured from a patient with alpha-mannosidase deficiency.

Authors:  G C Tsay; G Dawson; R Matalon
Journal:  J Clin Invest       Date:  1975-09       Impact factor: 14.808

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.  Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.

Authors:  H Park; M B Vettese; A H Fensom; K J Fisher; N N Aronson
Journal:  Biochem J       Date:  1993-03-15       Impact factor: 3.857

8.  Variation of urinary excretion of aspartylglucosamine and associated clinical findings in aspartyglucosaminuria.

Authors:  P Aula; K O Raivio; P Maury
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

  8 in total

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