Esther M. Maier

Correspondence on “Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)” by Smith et al

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial

Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Monogenic variants in dystonia: an exome-wide sequencing study

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects

Issues with European guidelines for phenylketonuria