List of works - Sarah C Grünert

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

scientific article

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

scientific article published on July 22, 2014

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

scientific article published on 19 June 2013

Against all odds: blended phenotypes of three single-gene defects

scientific article published on January 27, 2016

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

scientific article published on 08 December 2011

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

scientific article published on July 30, 2015

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

scientific article published on October 5, 2010

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

scientific article published on 14 February 2020

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

scientific article published on 05 July 2013

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

scientific article published in 2022

Elevated Plasma Vitamin B12 in Patients with Hepatic Glycogen Storage Diseases

scientific article published on 22 July 2020

How strict is galactose restriction in adults with galactosaemia? International practice

scientific article published on April 7, 2015

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

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

scientific article published on 08 November 2019

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

scientific article published on 28 April 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

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

scientific article published on 21 October 2020

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