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Author Details

Julien H Park
Umea University
2014
25
9
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
37686084Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins.Int J Mol Sci2023
32487539TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.J Med Genet2021
34380532Mannose supplementation in PMM2-CDG.Orphanet J Rare Dis2021
34567084Treatment Options in Congenital Disorders of Glycosylation.Front Genet2021
34258140Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).JIMD Rep2021
31573664Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants.Acta Derm Venereol2020
31960041Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1.Brain2020
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
32753748The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.Sci Rep2020
30641270Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.J Chromatogr B Analyt Technol Biomed Life Sci2019
31332433SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.Brain2019
28749473SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.Genet Med2018
28794993Limitations of galactose therapy in phosphoglucomutase 1 deficiency.Mol Genet Metab Rep2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
25956699Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.Pediatr Nephrol2016
26333807It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.Alcohol Alcohol2016
26238249TMEM165 Deficiency: Postnatal Changes in Glycosylation.JIMD Rep2016
25947087Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.Pediatr Nephrol2016
25305627Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.Clin Biochem2015
26637979SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.Am J Hum Genet2015
24875750The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.Clin Chim Acta2014
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Collaborators

Thorsten Marquardt
University Children's Hospital Munster
Co-authored papers 25
Janine Reunert
University Children's Hospital Munster
Co-authored papers 18
Yoshinao Wada
Osaka Women's and Children's Hospital
Co-authored papers 12
Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
Co-authored papers 5
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Co-authored papers 3
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Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 2
Virginie Hauser
California Institute of Technology
Co-authored papers 1
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Institute of Human Genetics, University Hospital Heidelberg
Co-authored papers 1
Sandrine Duvet
University Lille, CNRS
Co-authored papers 1
Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
Co-authored papers 1
Peter Freisinger
Hospital Reutlingen
Co-authored papers 1
Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 1
Fran??ois Foulquier
CNRS, Universite de Lille
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Kym M Boycott
Children's Hospital of Eastern Ontario
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Center for Human Genetics
Co-authored papers 1
Heymut Omran
University Hospital Muenster
Co-authored papers 1
Eugen Boltshauser
Children's University Hospital
Co-authored papers 1
Stefanie J??ger
Institute of Molecular Biosciences, Goethe University Frankfurt
Co-authored papers 1
Susana Nobre
Centro Hospitalar e Universitario de Coimbra
Co-authored papers 1
Mark J Daly
Massachusetts General Hospital
Co-authored papers 1
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Co-authored papers 1
Miao He
Children's Hospital of Philadelphia
Co-authored papers 1
Magda Cannata Serio
INSERM UMR3, Institut IMAGINE
Co-authored papers 1
Maria Clara Guida
Sanford-Burnham-Prebys Medical Discovery Institute
Co-authored papers 1
Thomas D Bird
University of Washington School of Medicine
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Gert Matthijs
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Release 1.2