Marianne Gruneberg
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Explore the profile of Marianne Gruneberg including associated specialties, affiliations and a list of published articles.
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24
Citations
350
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Recent Articles
1.
Heckmann K, Iuso A, Reunert J, Gruneberg M, Seelhofer A, Rust S, et al.
JIMD Rep
. 2024 Nov;
65(6):417-425.
PMID: 39512436
encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental delay, lactic...
2.
Klank S, van Stein C, Gruneberg M, Ottolenghi C, Rauwolf K, Grebe J, et al.
Pharmaceutics
. 2023 Jul;
15(7).
PMID: 37514038
Cystinosis is a severe inherited metabolic storage disease caused by the lysosomal accumulation of cystine. Lifelong therapy with the drug cysteamine bitartrate is necessary. Cysteamine cleaves intralysosomal cystine, and thereafter,...
3.
van Stein C, Klank S, Gruneberg M, Ottolenghi C, Grebe J, Reunert J, et al.
Orphanet J Rare Dis
. 2021 Sep;
16(1):387.
PMID: 34521447
Background: Nephropathic cystinosis is a rare and severe metabolic disease leading to an accumulation of cystine in lysosomes which especially harms kidney function. A lifelong therapy with the aminothiol cysteamine...
4.
Taday R, Park J, Gruneberg M, DuChesne I, Reunert J, Marquardt T
Orphanet J Rare Dis
. 2021 Aug;
16(1):359.
PMID: 34380532
In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in...
5.
Gunzer S, Kraus A, Buchroth I, Gruneberg M, Westermann C, Biskup S, et al.
Liver Int
. 2021 Aug;
41(10):2427-2432.
PMID: 34358398
Cryptogenic elevation of transaminases in childhood can in a few instances be linked to rare hereditary causes. In this paper, a 7-year old girl is reported who was diagnosed with...
6.
Kemme L, Gruneberg M, Reunert J, Rust S, Park J, Westermann C, et al.
JIMD Rep
. 2021 Jul;
60(1):42-55.
PMID: 34258140
MAN1B1-CDG is a multisystem disorder caused by mutations in , encoding the endoplasmic reticulum mannosyl-oligosaccharide alpha-1,2-mannnosidase. A defect leads to dysfunction within the degradation of misfolded glycoproteins. We present two...
7.
Park J, Reunert J, He M, Mealer R, Noel M, Wada Y, et al.
Mol Genet Metab Rep
. 2020 Dec;
25:100680.
PMID: 33312876
FUT8-CDG is a severe multisystem disorder caused by mutations in , encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities....
8.
Cooper N, Li Y, Moller A, Schulz-Weidner N, Sachs U, Wagner F, et al.
Clin Immunol
. 2020 Sep;
221:108599.
PMID: 32992000
Individuals with the Bombay phenotype (Oh) in the ABO blood group system do not express the H, A, and B antigens but have no clinical symptoms. Bombay phenotype with clinical...
9.
Taday R, Gruneberg M, DuChesne I, Reunert J, Marquardt T
Orphanet J Rare Dis
. 2020 Sep;
15(1):258.
PMID: 32962735
Background: PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mannose supplementation in PMM2-CDG...
10.
Muhlhausen C, Henneke L, Schlotawa L, Behme D, Gruneberg M, Gartner J, et al.
JIMD Rep
. 2020 Sep;
55(1):38-43.
PMID: 32905087
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG; formerly named CDG type 1b) is characterized by the clinical triad of hepatopathy, protein-losing enteropathy, and hyperinsulinemic hypoglycemia in combination with coagulation...