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

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

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P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry by Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann

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O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry* by Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann

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Whole genome sequencing in clinical practice by Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen

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The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis by Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol

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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 by Camilla Heldbjerg Drabe, Rasmus L. Marvig, Line Borgwardt, Jens D. Lundgren, Jens D. Lundgren, Hanne Vibeke Hansen Maquart, Terese Lea Katzenstein, Marie Helleberg, Marie Helleberg

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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 by Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund

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Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2 by Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, Christian Godballe, Christian Godballe, Morten Møller Poulsen, Filipe G. Vieira, Jes Sloth Mathiesen, Jes Sloth Mathiesen, Maria Rossing, Maria Rossing

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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 Variatio... by Sara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, Joanne Reekie, Hanne V. Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Terese L. Katzenstein, Tania N. Masmas, Jens Lundgren, Jens Lundgren, Daniel D. Murray, Marie Helleberg, Marie Helleberg, Line Borgwardt

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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 participan... by Sara Bohnstedt Mørup, Preston Leung, Cavan Reilly, Brad T. Sherman, Weizhong Chang, Maja Milojevic, Ana Milinkovic, Angelike Liappis, Line Borgwardt, Kathy Petoumenos, Roger Paredes, Shweta S. Mistry, Cameron R. MacPherson, Jens Lundgren, Marie Helleberg, Joanne Reekie, Daniel D. Murray, for the INSIGHT FIRST and START study groups

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Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis by Line Borgwardt MD, Nathalie Guffon MD, Yasmina Amraoui MD, Simon A. Jones MD, Linda De Meirleir MD, Allan M. Lund MD, Mercedes Gil-Campos MD, Johanna M. P. Van den Hout MD, Anna Tylki-Szymanska MD, Silvia Geraci MS, Diego Ardigò MD, PhD, Federica Cattaneo MD, Paul Harmatz MD, Dawn Phillips PT, MS, PhD

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