Marianne Gruneberg

Muenster, NW 48149, Germany

Last Updated: 09/26/2026

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Found 28 publications

The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report.

The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report.

Journal: BMC psychiatry
Published: December 19, 2024

Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.

Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.

Journal: JIMD reports
Published: June 20, 2024

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.

Journal: Pharmaceutics
Published: June 01, 2023

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis.

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis.

Journal: Orphanet journal of rare diseases
Published: June 03, 2021

Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.

Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.

Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: April 23, 2021

Mannose supplementation in PMM2-CDG.

Mannose supplementation in PMM2-CDG.

Journal: Orphanet journal of rare diseases
Published: April 22, 2021

L-Fucose treatment of FUT8-CDG.

L-Fucose treatment of FUT8-CDG.

Journal: Molecular genetics and metabolism reports
Published: October 31, 2020

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).

Journal: JIMD reports
Published: July 28, 2020

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

Journal: Journal of inherited metabolic disease
Published: June 24, 2020

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.

Journal: Molecular genetics and metabolism reports
Published: June 24, 2020

Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.

Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.

Journal: Clinical immunology (Orlando, Fla.)
Published: June 21, 2020

Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine.

Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine.

Journal: Molecular genetics and metabolism reports
Published: June 20, 2020
Showing 1-12 of 28

Last Updated: 09/26/2026