Lund, Allan Meldgaard Y.

Top Publications

Top Publications Authored or Co-Authored by "Lund, Allan Meldgaard Y."

• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70
• OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

  Human Mutation, Volume 31, No. 1, Year 2010, Citations 36
• Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 160 C, No. 3, Year 2012, Citations 31
• Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

  Molecular Genetics and Metabolism, Volume 124, No. 2, Year 2018, Citations 28
• Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

  American Journal of Medical Genetics, Part A, Volume 164, No. 5, Year 2014, Citations 28