Literature DB >> 3917501

Cardiac involvement in diseases characterized by beta-galactosidase deficiency.

H Rosenberg, T C Frewen, M D Li, B L Gordon, J H Jung, J P Finlay, P L Roy, D Grover, M Spence.   

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Year:  1985        PMID： 3917501     DOI： 10.1016/s0022-3476(85)80472-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  4 in total

1.  Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.

Authors:  S Zhang; R Bagshaw; W Hilson; Y Oho; A Hinek; J T Clarke; J W Callahan
Journal:  Biochem J       Date:  2000-06-15       Impact factor: 3.857

2.  Clinical heterogeneity in infantile galactosialidosis.

Authors:  A C Sewell; B F Pontz; D Weitzel; C Humburg
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

3.  Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

Authors:  A Hinek; S Zhang; A C Smith; J W Callahan
Journal:  Am J Hum Genet       Date:  2000-06-06       Impact factor: 11.025

Review 4.  Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis.

Authors:  A Kohlschütter; G Hausdorf
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183
  4 in total

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