Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria-Reference-Cited by-同舟云学术

Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

Published:2020-07-15 Issue:9 Volume:41 Page:1662-1670
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Park Insun¹,Hůlková Helena²³,Krijt Jakub³,Kožich Viktor³^ORCID,Bublil Erez M.⁴,Majtan Tomas¹^ORCID

Affiliation:

1. Department of Pediatrics University of Colorado Anschutz Medical Campus Aurora Colorado

2. Institute of Pathology Charles University‐First Faculty of Medicine and General University Hospital Prague Czech Republic

3. Department of Pediatrics and Adolescent Medicine Charles University‐First Faculty of Medicine and General University Hospital Prague Czech Republic

4. Orphan Technologies Ltd. Rapperswil Switzerland

Funder

American Heart Association

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24072

Reference19 articles.

1. Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism

2. Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I

3. Quantitation of S-Adenosylmethionine and S-Adenosylhomocysteine in Plasma Using Liquid Chromatography-Electrospray Tandem Mass Spectrometry

4. Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model

5. Electron Microscopic Changes in Hepatocytes of Patients with Homocystinuria

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