On Twitter

Follow the ALD database on twitter to keep up-to-date with the latest news and other interesting facts related to ALD. Or read our latest tweets below.

Identification of a variant of unknown significance - without a family history of disease - results in a diagnostic dilemma. Biochemical studies in #ALD fibroblasts classified 15/17 VUS in ABCD1 as likely pathogenic/benign. Free at https://t.co/xpOq7sAObK #mdpigenes @Genes_MDPI

Another new #Visualabstract

Differential outcomes for frontal versus posterior demyelination in childhood cerebral #adrenoleukodystrophy

Thank you to Samuel Kroening who put this together.

Guptam et al


@ald_team @ALD_Facts

Multi-stakeholders perspective qualitative study on newborn screening expansion identified 2 types of perspectives: a “targeted-scope” vs. “broad scope” view regarding health gain and individual parental autonomy. Free at https://t.co/dxuEz2LcdO @FrontPediatrics @ZonMw @rivm

Yorrick Jaspers presents our work on C26:0-lysoPC as a superior biomarker - compared to the traditional plasma VLCFA analysis - for the diagnosis of peroxisomal disorders at the #SSIEM2021 Check our #openaccess paper: https://t.co/UoovOQRAd2 @FrontiersIn ⁦@YorrickJaspers⁩

The Greyzone: In the first ALD Family podcast @StephanKempNL and @nicadler discuss the ALD variant database, newborn screening, the possibility of variants having milder phenotypes and what a dj has to do with ALD.

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Last modified | 2019-09-24