Sarah C. Grunert

Freiburg, BW, Germany

Last Updated: 09/26/2026

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Found 25 publications

State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres.

State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres.

Journal: Molecular genetics and metabolism
Published: February 08, 2025

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 08, 2024

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 25, 2022

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

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

Journal: Orphanet journal of rare diseases
Published: January 11, 2022

Impact of glycogen storage disease type I on adult daily life: a survey.

Impact of glycogen storage disease type I on adult daily life: a survey.

Journal: Orphanet journal of rare diseases
Published: April 19, 2021

Glycogen storage disease type I patients with hyperlipidemia have no signs of early vascular dysfunction and premature atherosclerosis.

Glycogen storage disease type I patients with hyperlipidemia have no signs of early vascular dysfunction and premature atherosclerosis.

Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD
Published: April 19, 2021

Citrin deficiency mimicking mitochondrial depletion syndrome.

Citrin deficiency mimicking mitochondrial depletion syndrome.

Journal: BMC pediatrics
Published: September 04, 2020

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Journal: Biochimie
Published: August 14, 2020

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

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

Journal: Orphanet journal of rare diseases
Published: June 17, 2020

Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

Journal: Orphanet journal of rare diseases
Published: January 22, 2020

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

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

Journal: Orphanet journal of rare diseases
Published: December 18, 2019

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

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

Journal: Orphanet journal of rare diseases
Published: November 20, 2019
Showing 1-12 of 25

Last Updated: 09/26/2026