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Author Details

Thorsten Marquardt
University Children's Hospital Munster
1987
174
43
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36793789The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.Brain Commun2023
37514038Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.Pharmaceutics2023
37584373Managing type 1 diabetes mellitus with a ketogenic diet.Endocrinol Diabetes Metab Case Rep2023
37686750MCT-Induced Ketosis and Fiber in Rheumatoid Arthritis (MIKARA)-Study Protocol and Primary Endpoint Results of the Double-Blind Randomized Controlled Intervention Study Indicating Effects on Disease Activity in RA Patients.Nutrients2023
37686084Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.Int J Mol Sci2023
37501103Mitochondrial DNA mutations in Medulloblastoma.Acta Neuropathol Commun2023
37765007Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease.Pharmaceuticals (Basel)2023
37277823Group-specific cellular metabolism in Medulloblastoma.J Transl Med2023
37242269Assessment of Intestinal Permeability and Inflammation Bio-Markers in Patients with Rheumatoid Arthritis.Nutrients2023
36904147Beta-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 in Healthy Adults.Nutrients2023
34596301Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.Mov Disord2022
35694196Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.Wellcome Open Res2022
36615753Nutrition Patterns and Their Gender Differences among Rheumatoid Arthritis Patients: A Descriptive Study.Nutrients2022
35997069Nephropathic cystinosis in Poland: a 40-year retrospective study.Pol Arch Intern Med2022
351745133-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.J Inherit Metab Dis2022
34874093A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.Am J Med Genet A2022
35300924Expanding the phenotypic spectrum of ARCN1-related syndrome.Genet Med2022
32487539TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.J Med Genet2021
33755596GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.J Clin Invest2021
33777714Adverse events using shorter MDR-TB regimens: outcomes from Port Moresby, Papua New Guinea.Public Health Action2021
33496032Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.J Inherit Metab Dis2021
34380532Mannose supplementation in PMM2-CDG.Orphanet J Rare Dis2021
34521447A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis.Orphanet J Rare Dis2021
34576089Uridine Treatment of the First Known Case of SLC25A36 Deficiency.Int J Mol Sci2021
34423067Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.Child Neurol Open2021
34567084Treatment Options in Congenital Disorders of Glycosylation.Front Genet2021
34102701Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.Klin Padiatr2021
33986717Severe Form of ÿIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.Front Neurol2021
341761363-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.J Inherit Metab Dis2021
34358398Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.Liver Int2021
34258140Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).JIMD Rep2021
33369099Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.Am J Med Genet A2021
33274439Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.J Inherit Metab Dis2021
32332102TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.J Med Genet2021
31049936Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes.Br J Dermatol2020
32033912Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.Mol Genet Metab2020
31960041Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1.Brain2020
32069498Diagnosis and Care of Infants and Children with Pompe Disease.Klin Padiatr2020
33257258Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.Mol Genet Metab2020
33312876L-Fucose treatment of FUT8-CDG.Mol Genet Metab Rep2020
32685378Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine.Mol Genet Metab Rep2020
32884905SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.Mol Genet Metab Rep2020
32852845N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.J Inherit Metab Dis2020
32992000Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.Clin Immunol2020
32962735Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).Orphanet J Rare Dis2020
32905087Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.JIMD Rep2020
32753748The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.Sci Rep2020
32212211Dermal osteomata as first symptom of Albright's hereditary osteodystrophy in a 10-month-old girl.J Dtsch Dermatol Ges2020
31573664Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants.Acta Derm Venereol2020
30557775Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.Nutrition2019
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Collaborators

Janine Reunert
University Children's Hospital Munster
Co-authored papers 53
Julien H Park
Umea University
Co-authored papers 25
Yoshinao Wada
Osaka Women's and Children's Hospital
Co-authored papers 18
Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
Co-authored papers 11
Hudson H Freeze
Co-authored papers 8
Peter Freisinger
Hospital Reutlingen
Co-authored papers 5
Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 5
Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
Co-authored papers 4
Dirk J Lefeber
Co-authored papers 4
Fran??ois Foulquier
CNRS, Universite de Lille
Co-authored papers 3
Daisy Rymen
Center for Metabolic Diseases, University Hospitals of Leuven
Co-authored papers 3
Richard D Cummings
Co-authored papers 3
Sandrine Duvet
University Lille, CNRS
Co-authored papers 2
Romain P??anne
Center for Human Genetics
Co-authored papers 2
Natalie J??ger
Hopp Children's Cancer Center Heidelberg (KiTZ)
Co-authored papers 2
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Co-authored papers 2
Dulce Quelhas
Unidade de Bioquimica Genetica, Centro Hospitalar Universitario do Porto
Co-authored papers 2
Stuart M Haslam
Co-authored papers 2
Juliane Winkelmann
Co-authored papers 2
Stefan Rutkowski
University Medical Center Hamburg-Eppendorf
Co-authored papers 2
David T W Jones
Hopp Children's Cancer Center Heidelberg (KiTZ)
Co-authored papers 2
Jaak Jaeken
Co-authored papers 2
Stefan M Pfister
Hopp Children's Cancer Center Heidelberg (KiTZ)
Co-authored papers 2
Heymut Omran
University Hospital Muenster
Co-authored papers 2
Marcel Kool
Hopp Children's Cancer Center (KiTZ)
Co-authored papers 2
Jordan W Smoller
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 2
Ulrich Sch??ller
University Medical Center Hamburg-Eppendorf
Co-authored papers 2
Till Milde
Hopp Children's Cancer Center Heidelberg (KiTZ)
Co-authored papers 2
Ineke Braakman
Utrecht University
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Release 1.2