Publications by authors named "Line Borgwardt"

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Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
Eileen Wedge, Andreas Ørslev Rasmussen, Line Borgwardt, Jack Bernard Cowland, Kirsten Grønbæk

Am J Med Genet A· December 2025

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STAT-1 gain-of-function CMC: Remission of Oral Candidiasis during PD-1 Inhibitor Treatment of Oral Cancer.
Jannik Helweg-Larsen, Ditte Marie L Saunte, Line Borgwardt, Claus Andrup Kristensen, Hanne Marquart

J Clin Immunol· November 2025

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Exploring the spectrum of central nervous system tumours in carriers of germline variants.
Emilie Neerup Nielsen, Anne Marie Jelsig, Jon Foss-Skiftesvik, Zuzana Lohse, Susanne Timshel, Line Borgwardt

J Med Genet· October 2025

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Genetics in a Danish Common Variable Immunodeficiency Cohort.
Camilla Heldbjerg Drabe, Mira Marie Laustsen, Hanne Vibeke Marquart, Hans Jakob Hartling, Rasmus L Marvig, Line Borgwardt

J Clin Immunol· June 2025

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Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis.
Nathalie Guffon, Line Borgwardt, Anna Tylki-Szymańska, Andrea Ballabeni, Francesca Donà

J Inherit Metab Dis· January 2025

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Rare germline chromosome 1 duplication identified in young male with colon cancer: a case report investigating causality.
Anna Byrjalsen, Sara L Garcia, Line Borgwardt, Karin Wadt, Anne Marie Gerdes

J Gastrointest Oncol· October 2024

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The association between single-nucleotide polymorphisms within type 1 interferon pathway genes and human immunodeficiency virus type 1 viral load in antiretroviral-naïve participants.
Sara Bohnstedt Mørup, Preston Leung, Cavan Reilly, Brad T Sherman, Weizhong Chang, Line Borgwardt

AIDS Res Ther· May 2024

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Whole genome sequencing in clinical practice.
Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen

BMC Med Genomics· January 2024

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A novel DOCK2 variant in siblings with severe combined immunodeficiency.
Maria Anna Bruusgaard-Mouritsen, Tania Masmas, Line Borgwardt, Lusine Nazaryan-Petersen, Carsten Heilmann

Scand J Immunol· March 2023

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Relationship between genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis.
Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund

JIMD Rep· March 2023

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Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Sara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, Joanne Reekie, Hanne V Marquart, Line Borgwardt

Front Immunol· July 2022

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Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II.
Elvira Silajdzija, Sofie Bliddal, Line Borgwardt, Maria Rossing, Anne Jarløv

Hormones (Athens)· June 2022

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Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Christopher J A Duncan, Morten K Skouboe, Sophie Howarth, Anne K Hollensen, Rui Chen, Line Borgwardt

J Exp Med· June 2022

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Germline Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, Christian Godballe, Morten Møller Poulsen

Front Endocrinol (Lausanne)· February 2022

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Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report.
Simone Diedrichsen Marstrand, Charlotte Landbo Tofteng, Anne Jarløv, Line Borgwardt, Peter Schwarz

J Med Case Rep· September 2021

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Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.
Camilla Heldbjerg Drabe, Rasmus L Marvig, Line Borgwardt, Jens D Lundgren, Hanne Vibeke Hansen Maquart

Front Immunol· May 2021

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Combining epigenetic therapy with venetoclax overcomes alemtuzumab resistance in T-cell prolymphocytic leukemia. A case report of a 26-year-old man with a prior history of T-cell acute lymphoblastic leukemia and GI-T lymphoma.
Michael Asger Andersen, Rebecca Valentin, Lene Dissing Sjö, Line Borgwardt, Kjeld Schmiegelow

Acta Oncol· December 2020

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The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.
Julia B Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt

Orphanet J Rare Dis· September 2020

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Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.
Ailsa Maria Main, Maria Rossing, Line Borgwardt, Birgitte Grønkær Toft, Åse Krogh Rasmussen

Endocr Connect· August 2020

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Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.
Dawn Phillips, Julia B Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos

Mol Genet Metab Rep· June 2020

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Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature.
Elias Badal Rashu, Anders Ellekær Junker, Karen Vagner Danielsen, Emilie Dahl, Ole Hamberg, Line Borgwardt

World J Clin Cases· May 2020

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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.
Allan M Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci

J Inherit Metab Dis· November 2018

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Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.
Line Borgwardt, Nathalie Guffon, Yasmina Amraoui, Christine I Dali, Linda De Meirleir

J Inherit Metab Dis· November 2018

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Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.
Paul Harmatz, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Julia B Hennermann, Line Borgwardt

Mol Genet Metab· June 2018

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Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, Flemming Wibrand, Helle Bagterp Klenow

Orphanet J Rare Dis· June 2015

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