Literature DB >> 4464238

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

P Aula, S Autio, K Raivio, V Näntö.   

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Year:  1974        PMID： 4464238     DOI： 10.1007/BF00336906

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  13 in total

1.  The N-acetylation and estimation of hexosamines.

Authors:  G A LEVVY; A MCALLAN
Journal:  Biochem J       Date:  1959-09       Impact factor: 3.857

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

Review 3.  Aspartylglycosaminuria. Analysis of thirty-four patients.

Authors:  S Autio
Journal:  J Ment Defic Res       Date:  1972

4.  Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.

Authors:  R J Pollitt; F A Jenner; H Merskey
Journal:  Lancet       Date:  1968-08-03       Impact factor: 79.321

5.  The Finnish population structure. A genetic and genealogical study.

Authors:  H R Nevanlinna
Journal:  Hereditas       Date:  1972       Impact factor: 3.271

6.  Aspartylglucosaminuria. II. Biochemical studies on brain, liver, kidney and spleen.

Authors:  J Palo; P Riekkinen; A U Arstila; S Autio; T Kivimäki
Journal:  Acta Neuropathol       Date:  1972       Impact factor: 17.088

7.  Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells.

Authors:  M M Kaback; C O Leonard; T H Parmley
Journal:  Pediatr Res       Date:  1971-08       Impact factor: 3.756

8.  Studies on enzymes acting on glycopeptides.

Authors:  M Makino; T Kojima; T Ohgushi; I Yamashina
Journal:  J Biochem       Date:  1968-02       Impact factor: 3.387

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

Authors:  P Aula; V Näntö; M L Laipio; S Autio
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

10.  Histidase activity in cultivated human amniotic fluid cells.

Authors:  S B Melancon; S Y Lee; H L Nadler
Journal:  Science       Date:  1971-08-13       Impact factor: 47.728
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  8 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Aspartylglucosaminuria among Palestinian Arabs.

Authors:  J Zlotogora; Z Ben-Neriah; B Y Abu-Libdeh; V Sury; M Zeigler
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

3.  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 4.  Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.

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

5.  Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.

Authors:  C R Scriver; C L Clow; P Kaplan; A Niederwieser
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

6.  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

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.  Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria.

Authors:  J L Keulemans; W J Kleijer; P Aula; G R Gray; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  8 in total

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