Literature DB >> 8558556

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.

M B Coulter-Mackie1, J Rip, M D Ludman, J Beis, D E Cole.   

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Year:  1995        PMID： 8558556      PMCID： PMC1051701          DOI： 10.1136/jmg.32.10.787

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

1.  The assay of arylsulphatases A and B in human urine.

Authors:  H BAUM; K S DODGSON; B SPENCER
Journal:  Clin Chim Acta       Date:  1959-05       Impact factor: 3.786

2.  Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22.

Authors:  M L Budarf; H E McDermid; B Sellinger; B S Emanuel
Journal:  Genomics       Date:  1991-08       Impact factor: 5.736

3.  Structure of the arylsulfatase A gene.

Authors:  J Kreysing; K von Figura; V Gieselmann
Journal:  Eur J Biochem       Date:  1990-08-17

4.  Phenotypic correlations in patients with ring chromosome 22.

Authors:  A G Hunter; M Ray; H S Wang; D R Thompson
Journal:  Clin Genet       Date:  1977-10       Impact factor: 4.438

5.  Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

Authors:  V Gieselmann; A Polten; J Kreysing; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

6.  Multifocal meningiomas in a patient with a constitutional ring chromosome 22.

Authors:  T Arinami; I Kondo; H Hamaguchi; S Nakajima
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

7.  Deleted ring chromosome 22 in a mentally retarded boy.

Authors:  K H Gustavson; W Arancibia; U Eriksson; L Svennerholm
Journal:  Clin Genet       Date:  1986-04       Impact factor: 4.438

Review 8.  "Pseudodeficiencies" of lysosomal hydrolases.

Authors:  G H Thomas
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

9.  Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Authors:  N J Nesslinger; J L Gorski; T W Kurczynski; S K Shapira; J Siegel-Bartelt; J P Dumanski; R F Cullen; B N French; H E McDermid
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

Review 10.  Molecular genetics of metachromatic leukodystrophy.

Authors:  V Gieselmann; J Zlotogora; A Harris; D A Wenger; C P Morris
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878
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  1 in total

1.  Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.

Authors:  M B Coulter-Mackie; L Gagnier; M J Beis; D A Applegarth; D E Cole; K Gordon; M D Ludman
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318
  1 in total

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