Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models-Reference-Cited by-同舟云学术

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

Published:2020-01-14 Issue:3 Volume:43 Page:392-408
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Haskovic Minela¹²³^ORCID,Coelho Ana I.¹²³,Bierau Jörgen²,Vanoevelen Jo M.²³,Steinbusch Laura K. M.²,Zimmermann Luc J. I.¹³,Villamor‐Martinez Eduardo¹³,Berry Gerard T.⁴,Rubio‐Gozalbo M. Estela¹²³

Affiliation:

1. Department of Pediatrics Maastricht University Medical Center+ Maastricht The Netherlands

2. Department of Clinical Genetics Maastricht University Medical Center+ Maastricht The Netherlands

3. GROW‐School for Oncology and Developmental Biology, Maastricht University Maastricht The Netherlands

4. The Manton Center for Orphan Disease Research, Division of Genetics and Genomics Boston Children's Hospital, Harvard Medical School Boston Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12202

Reference99 articles.

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

3. Defective galactosylation of serum transferrin in galactosemia

4. Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

5. GALT deficiency causes UDP-hexose deficit in human galactosemic cells

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