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List of works by Andreas Schulze

An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool

scientific article

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

scientific article published in 2022

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

scientific article published on 31 August 2015

Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration

scientific article published on 17 January 2020

NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders

scientific article

Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome

scientific article published on 11 July 2018

Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency

scientific article published on 28 May 2014

Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.

scientific article

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