Literature DB >> 1360589

Serum lysosomal enzyme abnormalities in galactosaemia.

J Jaeken, J Kint, L Spaapen.   

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Year:  1992        PMID： 1360589     DOI： 10.1016/0140-6736(92)92664-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  22 in total

1.  Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Authors:  L J M Spaapen; J A Bakker; S B van der Meer; H J Sijstermans; R A Steet; R A Wevers; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 2.  Innovative therapy for Classic Galactosemia - tale of two HTS.

Authors:  M Tang; S I Odejinmi; H Vankayalapati; K J Wierenga; K Lai
Journal:  Mol Genet Metab       Date:  2011-10-01       Impact factor: 4.797

Review 3.  Galactosaemia: pathogenesis and treatment.

Authors:  J B Holton
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Komrower Lecture. Galactosaemia today: the enigma and the challenge.

Authors:  S Segal
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

5.  Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia.

Authors:  M Adamowicz; E Pronicka
Journal:  Eur J Pediatr       Date:  1996-04       Impact factor: 3.183

6.  Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Authors:  J Jaeken; G Matthijs; R Barone; H Carchon
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

7.  N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

Authors:  Ying Liu; Baoyun Xia; Tyler J Gleason; Uriel Castañeda; Miao He; Gerard T Berry; Judith L Fridovich-Keil
Journal:  Mol Genet Metab       Date:  2012-06-12       Impact factor: 4.797

Review 8.  Classical galactosaemia revisited.

Authors:  Annet M Bosch
Journal:  J Inherit Metab Dis       Date:  2006-07-11       Impact factor: 4.982

Review 9.  The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors:  J Jaeken; H Carchon
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

10.  Biomarkers of ovarian function in girls and women with classic galactosemia.

Authors:  Rebecca D Sanders; Jessica B Spencer; Michael P Epstein; Susan V Pollak; Pratibhasri A Vardhana; Joyce W Lustbader; Judith L Fridovich-Keil
Journal:  Fertil Steril       Date:  2008-08-05       Impact factor: 7.329
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