Literature DB >> 4105426

The neuropathology of galactosemia. A histopathological and biochemical study.

C Haberland, M Perou, E G Brunngraber, H Hof.   

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Year:  1971        PMID： 4105426     DOI： 10.1097/00005072-197107000-00009

Source DB:  PubMed          Journal:  J Neuropathol Exp Neurol        ISSN： 0022-3069            Impact factor:   3.685


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  28 in total

1.  Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

Authors:  Gerard T Berry; Louis J Elsas
Journal:  J Inherit Metab Dis       Date:  2010-11-30       Impact factor: 4.982

Review 2.  Galactosaemia: pathogenesis and treatment.

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

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

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

4.  Deficit of uridine diphosphate galactose in galactosaemia.

Authors:  W G Ng; Y K Xu; F R Kaufman; G N Donnell
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  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

6.  Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins.

Authors:  H Böhles; D Wenzel; Y S Shin
Journal:  Eur J Pediatr       Date:  1986-10       Impact factor: 3.183

Review 7.  Classical galactosaemia revisited.

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

8.  Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.

Authors:  Patricia P Jumbo-Lucioni; William M Parkinson; Danielle L Kopke; Kendal Broadie
Journal:  Hum Mol Genet       Date:  2016-07-27       Impact factor: 6.150

9.  Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.

Authors:  Ashwini Maratha; Hugh-Owen Colhoun; Ina Knerr; Karen P Coss; Peter Doran; Eileen P Treacy
Journal:  JIMD Rep       Date:  2016-08-09

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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