Treatment Options in Congenital Disorders of Glycosylation

por Park, Julien H., Marquardt, Thorsten
Publicado 2021

Managing type 1 diabetes mellitus with a ketogenic diet

por Gardemann, Clemens, Knowles, Sonja, Marquardt, Thorsten
Publicado 2023

Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease

por Fiege, Lina, Duran, Ibrahim, Marquardt, Thorsten
Publicado 2023

Nutrition Patterns and Their Gender Differences among Rheumatoid Arthritis Patients: A Descriptive Study

por Heidt, Christina, Kämmerer, Ulrike, Marquardt, Thorsten, Reuss-Borst, Monika
Publicado 2022

Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD

por Fischer, Tobias, Elpers, Christiane, Och, Ulrike, Fobker, Manfred, Marquardt, Thorsten
Publicado 2019

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

por Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten
Publicado 2020

Beta-Hydroxybutyrate (BHB), Glucose, Insulin, Octanoate (C8), and Decanoate (C10) Responses to a Medium-Chain Triglyceride (MCT) Oil with and without Glucose: A Single-Center Study...

por Heidt, Christina, Fobker, Manfred, Newport, Mary, Feldmann, Reinhold, Fischer, Tobias, Marquardt, Thorsten
Publicado 2023

MCT-Induced Ketosis and Fiber in Rheumatoid Arthritis (MIKARA)—Study Protocol and Primary Endpoint Results of the Double-Blind Randomized Controlled Intervention Study Indicating E...

por Heidt, Christina, Pons-Kühnemann, Jörn, Kämmerer, Ulrike, Marquardt, Thorsten, Reuss-Borst, Monika
Publicado 2023

Uridine Treatment of the First Known Case of SLC25A36 Deficiency

por Jasper, Luisa, Scarcia, Pasquale, Rust, Stephan, Reunert, Janine, Palmieri, Ferdinando, Marquardt, Thorsten
Publicado 2021

Assessment of Intestinal Permeability and Inflammation Bio-Markers in Patients with Rheumatoid Arthritis

por Heidt, Christina, Kämmerer, Ulrike, Fobker, Manfred, Rüffer, Andreas, Marquardt, Thorsten, Reuss-Borst, Monika
Publicado 2023

A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat

por Remenova, Tatiana, Morand, Olivier, Amato, Dominick, Chadha-Boreham, Harbajan, Tsurutani, Scott, Marquardt, Thorsten
Publicado 2015

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

por Linden, Simone, Klank, Sabrina, Harms, Erik, Grüneberg, Marianne, Park, Julien H., Marquardt, Thorsten
Publicado 2020

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing

por Quitmann, Christina M., Rust, Stephan, Reunert, Janine, Biskup, Saskia, Fiedler, Barbara, Marquardt, Thorsten
Publicado 2021

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatab...

por Mühlhausen, Chris, Henneke, Lisa, Schlotawa, Lars, Behme, Daniel, Grüneberg, Marianne, Gärtner, Jutta, Marquardt, Thorsten
Publicado 2020

Mannose supplementation in PMM2-CDG

por Taday, Roman, Park, Julien H., Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten
Publicado 2021

Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins

por Kunzelmann, Karl, Ousingsawat, Jiraporn, Kraus, Andre, Park, Julien H., Marquardt, Thorsten, Schreiber, Rainer, Buchholz, Björn
Publicado 2023

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening()

por Reunert, Janine, Fobker, Manfred, Kannenberg, Frank, Du Chesne, Ingrid, Plate, Maria, Wellhausen, Judith, Rust, Stephan, Marquardt, Thorsten
Publicado 2015

Effect of a Sodium and Calcium DL-β-Hydroxybutyrate Salt in Healthy Adults

por Fischer, Tobias, Och, Ulrike, Klawon, Ira, Och, Tim, Grüneberg, Marianne, Fobker, Manfred, Bordewick-Dell, Ursula, Marquardt, Thorsten
Publicado 2018

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

por van Stein, Christina, Klank, Sabrina, Grüneberg, Marianne, Ottolenghi, Chris, Grebe, Jürgen, Reunert, Janine, Harms, Erik, Marquardt, Thorsten
Publicado 2021

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MA...

por Kemme, Lisa, Grüneberg, Marianne, Reunert, Janine, Rust, Stephan, Park, Julien, Westermann, Cordula, Wada, Yoshinao, Schwartz, Oliver, Marquardt, Thorsten
Publicado 2021