Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria-Reference-Cited by-同舟云学术

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Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

Published:2017-08-16 Issue:12 Volume:31 Page:5495-5506
ISSN:0892-6638
Container-title:The FASEB Journal
language:en
Short-container-title:FASEB j.

Author:

Majtan Tomas¹,Hůlková Helena²³,Park Insun¹,Krijt Jakub²,Kožich Viktor²,Bublil Erez M.⁴,Kraus Jan P.¹

Affiliation:

1. Department of PediatricsUniversity of Colorado School of MedicineAuroraColoradoUSA

2. Institute of Inherited Metabolic Disorders andPragueCzech Republic

3. Institute of PathologyCharles University–First Faculty of Medicine and General University HospitalPragueCzech Republic

4. Orphan Technologies LimitedRapperswilSwitzerland

Funder

Colorado Clinical and Translational Sciences Institute

National Institutes of Health

National Center for Advancing Translational Sciences

American Heart Association

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry,Biotechnology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1096/fj.201700565R

Reference26 articles.

1. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

2. Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions

3. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

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

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function;Redox Biology;2024-07

2. Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?;Journal of Inherited Metabolic Disease;2024-06-14

3. Hypermethylation of the ALOX12 and CBS promoters in osteoporosis: Potential biomarkers for early diagnosis;Genes & Diseases;2024-01

4. Sexual dimorphism in the response to dietary restriction in mice: A systematic review of the literature;Nutrition and Healthy Aging;2022-12-29

5. Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria;British Journal of Pharmacology;2022-12-08

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