Andrea Dieckmann
Jena, TH, Germany
Last Updated: 09/26/2026
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Found 11 publications
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Journal: Journal of inherited metabolic disease
Published: January 25, 2023
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Journal: Scientific reports
Published: October 13, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Journal: Scientific reports
Published: June 14, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Journal: Journal of inherited metabolic disease
Published: December 17, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
Journal: Journal of inherited metabolic disease
Published: October 07, 2020
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Journal: Neurology. Genetics
Published: May 01, 2019
Strain Ultrasound Elastography of Muscles in Healthy Children and Healthy Adults.
Journal: RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
Published: April 30, 2019
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Journal: The Journal of pediatrics
Published: February 15, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Journal: American journal of medical genetics. Part A
Published: October 25, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Journal: Annals of neurology
Published: January 09, 2018
Brain morphometry in Pontocerebellar Hypoplasia type 2.
Journal: Orphanet journal of rare diseases
Published: April 08, 2016
Showing 1-11 of 11
Last Updated: 09/26/2026