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序号 标题 作者 起始页 操作
1 The doxycycline paradox in primary mitochondrial diseases Shamima Rahman, Eva Morava, Tamas Kozicz 659
2 Ornithine transcarbamylase deficiency: A diagnostic odyssey Ina Knerr, David Cassiman 661
3 How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques Richard Rodenburg, Hans R. Waterham, Ron A. Wevers... 663
4 Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders Brechtje Hoegen, Juliet E. Hampstead, Udo F.H. Engelke... 682
5 Oral administration of phenylalanine molecularly imprinted polymer (MIP) benefits PKU mouse model Mansour Torab, Majid Jafari‐Sabet, Parvaneh Najafizadeh... 696
6 A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia Sangwoo T. Han, Katherine J. Anderson, Hans T. Bjornsson... 710
7 Postauthorization safety study of betaine anhydrous Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention... 719
8 Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia Michael A. Swanson, Kristen Miller, Sarah P. Young... 734
9 Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia Britt Delnoy, Minela Haskovic, Jo Vanoevelen... 748
10 Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5 Cécile Boulanger, Xavier Stephenne, Jennifer Diederich... 759