Literature DB >> 477017

Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency.

W J Kleijer, A Hoogeveen, F W Verheijen, M F Niermeijer, H Galjaard, J S O'Brien, T G Warner.   

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Year:  1979        PMID： 477017     DOI： 10.1111/j.1399-0004.1979.tb00851.x

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


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  14 in total

1.  I-cell disease (Mucolipidosis II).

Authors:  M Kabra; S Gulati; M Kaur; J Sharma; A Singh; V Chopra; P S Menon; V Kalra
Journal:  Indian J Pediatr       Date:  2000-09       Impact factor: 1.967

2.  Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.

Authors:  S Palmeri; A T Hoogeveen; F W Verheijen; H Galjaard
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

Review 3.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

4.  Clinical and genetic characteristics of type I sialidosis patients in mainland China.

Authors:  Rui-Juan Lv; Tao-Ran Li; Yu-Di Zhang; Xiao-Qiu Shao; Qun Wang; Li-Ri Jin
Journal:  Ann Clin Transl Neurol       Date:  2020-05-29       Impact factor: 4.511

5.  Infantile type 2 sialidosis in a Pakistani family--a clinical and biochemical study.

Authors:  M King; F Cockburn; G B MacPhee; R W Logan
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family.

Authors:  I Maire; A R Nivelon-Chevallier
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

7.  Neuraminidase deficiency presenting as non-immune hydrops fetalis.

Authors:  M Beck; S W Bender; H L Reiter; W Otto; R Bässler; H Dancygier; J Gehler
Journal:  Eur J Pediatr       Date:  1984-12       Impact factor: 3.183

8.  Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

Authors:  A D'Azzo; A Hoogeveen; A J Reuser; D Robinson; H Galjaard
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205

9.  Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for beta-galactosidase.

Authors:  E Nanba; A Tsuji; K Omura; Y Suzuki
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

10.  Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.

Authors:  R M D'Agrosa; M Hubbes; S Zhang; R Shankaran; J W Callahan
Journal:  Biochem J       Date:  1992-08-01       Impact factor: 3.857
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