Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
Author:
Funder
PTC Therapeutics
Publisher
Elsevier BV
Reference20 articles.
1. D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia;Werner;Am. J. Med. Genet. A,2022
2. High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan;Chen;Mol Genet Metab Rep,2022
3. Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders;Klouwer;J. Inherit. Metab. Dis.,2017
4. Diagnosis of peroxisomal disorders;Shimozawa,2019
5. AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data;Quinodoz;Nat. Commun.,2021
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