List of works - Sarah C Grünert

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

scientific article published on 28 April 2020

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

scientific article published on 14 February 2020

Analysis of S-Adenosylmethionine and S-Adenosylhomocysteine: Method Optimisation and Profiling in Healthy Adults upon Short-Term Dietary Intervention

scientific article published in 2022

Citrin deficiency mimicking mitochondrial depletion syndrome

scientific article published on 11 November 2020

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

scientific article published on 19 June 2013

Elevated Plasma Vitamin B12 in Patients with Hepatic Glycogen Storage Diseases

scientific article published on 22 July 2020

Fanconi–Bickel syndrome: GLUT2 mutations associated with a mild phenotype ⬇️

scientific article published on 08 December 2011

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease ⬇️

scientific article published on October 5, 2010

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

scientific article published on 24 August 2020

Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders

scientific article published in 2021

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management ⬇️

scientific article published on 05 July 2013

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

scientific article

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

scientific article published on 08 November 2019

Severe allergic contact dermatitis to two different continuous glucose monitoring devices in a patient with glycogen storage disease type 9b