标题
Long-term complications in classic galactosemia are not progressive
作者
关键词
-
出版物
MOLECULAR GENETICS AND METABOLISM
Volume 140, Issue 3, Pages 107708
出版商
Elsevier BV
发表日期
2023-10-12
DOI
10.1016/j.ymgme.2023.107708
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- OP005: AT-007 significantly reduces toxic galactitol in ACTION-galactosemia kids - the 1st therapeutic interventional clinical trial in children with classic galactosemia
- (2022) Evan Bailey et al. GENETICS IN MEDICINE
- Pathophysiology of long-term complications in classic galactosemia: What we do and do not know
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- AAV ‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts
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- Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia
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- Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia
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- Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia
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- International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
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- A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia
- (2014) Sandra C. Van Calcar et al. MOLECULAR GENETICS AND METABOLISM
- Longitudinal Assessment of Intellectual Achievement in Patients With Classical Galactosemia
- (2010) P. Schadewaldt et al. PEDIATRICS
- Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support
- (2008) Paul A. Harris et al. JOURNAL OF BIOMEDICAL INFORMATICS
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