Anke Schumann
Overview
Explore the profile of Anke Schumann including associated specialties, affiliations and a list of published articles.
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34
Citations
228
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Recent Articles
1.
Schumann A, Garbade S, Beblo S, Gautschi M, Haas D, Hochuli M, et al.
Mol Genet Metab
. 2025 Feb;
144(3):109054.
PMID: 39954548
Glycogen storage disease (GSD) type Ia (glucose-6-phosphatase deficiency) and Ib (glucose-6-phosphate transporter deficiency) are both clinically characterized by fasting hypoglycaemia and hepatomegaly. Chronic kidney disease (CKD) with loss of glomerular...
2.
Schumann A, Martinez-Pizarro A, Richard E, Schell C, Kossinger A, Zeyer K, et al.
Sci Rep
. 2024 Dec;
14(1):30478.
PMID: 39681572
Mutations in the mitochondrial enzyme propionyl-CoA carboxylase (PCC) cause propionic aciduria (PA). Chronic kidney disease (CKD) is a known long-term complication. However, good metabolic control and standard therapy fail to...
3.
Moritz L, Schumann A, Pohl M, Kottgen A, Hannibal L, Spiekerkoetter U
Clin Biochem
. 2023 Dec;
123:110703.
PMID: 38097032
Chronic kidney disease (CKD) affects over 0.5 billion people worldwide across their lifetimes. Despite a growingly ageing world population, an increase in all-age prevalence of kidney disease persists. Adult-onset forms...
4.
Syeda S, Lone M, Mohassel P, Donkervoort S, Munot P, Franca Jr M, et al.
J Neurol Neurosurg Psychiatry
. 2023 Dec;
95(2):103-113.
PMID: 38041679
Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and pathomechanisms. Monogenic childhood-onset ALS, although rare, forms...
5.
Maier S, Nickel K, Lange T, Oeltzschner G, Dacko M, Endres D, et al.
Mol Autism
. 2023 Nov;
14(1):44.
PMID: 37978557
Introduction: Autism spectrum disorder (ASD) encompasses a heterogeneous group with varied phenotypes and etiologies. Identifying pathogenic subgroups could facilitate targeted treatments. One promising avenue is investigating energy metabolism, as mitochondrial...
6.
Raynor A, Bruneel A, Vermeersch P, Cholet S, Friedrich S, Eckenweiler M, et al.
Proteomics Clin Appl
. 2023 Oct;
18(2):e2300040.
PMID: 37876147
Purpose: Congenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn errors of metabolism. Despite the availability of next-generation sequencing techniques and advanced methods for evaluation...
7.
Nickel K, Menke M, Endres D, Runge K, Tucci S, Schumann A, et al.
Autism Res
. 2023 Sep;
16(11):2125-2138.
PMID: 37715660
Previous research suggests potential mitochondrial dysfunction and changes in fatty acid metabolism in a subgroup of individuals with autism spectrum disorder (ASD), indicated by higher lactate, pyruvate levels, and mitochondrial...
8.
Schumann A, Schultheiss U, Ferreira C, Blau N
Mol Genet Metab
. 2023 Aug;
140(3):107683.
PMID: 37597335
Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney disease are numerous, extending from common disease groups like diabetes and arterial hypertension to rare...
9.
Grunert S, Ziagaki A, Heinen A, Schumann A, Tucci S, Spiekerkoetter U, et al.
Genes (Basel)
. 2023 Jul;
14(7).
PMID: 37510312
Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in . The RFVT1 protein is mainly expressed in the placenta and intestine. To...
10.
Schumann A, Brutsche M, Havermans M, Grunert S, Kolker S, Gross O, et al.
Sci Rep
. 2023 May;
13(1):7677.
PMID: 37169781
Methylmalonic aciduria (MMA-uria) is caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). MUT deficiency hampers energy generation from specific amino acids, odd-chain fatty acids and cholesterol. Chronic kidney...