29 MAG 2024 · New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Current Osteoporosis Reports on April 11, 2024, titled "Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know."  Read the paper here: https://link.springer.com/article/10.1007/s11914-024-00870-6 Learn more about BBDC: https://bbd.rarediseasesnetwork.org

29 MAG 2024 · New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on April 10, 2024, titled "Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG."  Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12739 Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org

29 MAG 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Neurological Sciences on April 1, 2024, titled "Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease." Read the paper here: https://link.springer.com/article/10.1007/s10072-024-07495-8 Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org

29 MAG 2024 · New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Frontiers in Immunology on March 8, 2024, titled "An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation."  Read the paper here: https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2024.1360369/full Learn more about LDN: https://ldn.rarediseasesnetwork.org

29 MAG 2024 · New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Neurological Sciences on April 1, 2024, titled "Association of Fibroblast Growth Factor 23 with Blood Pressure in Primary Proteinuric Glomerulopathies." Read the paper here: https://karger.com/ajn/article-abstract/55/2/187/886423/Association-of-Fibroblast-Growth-Factor-23-with?redirectedFrom=fulltext Learn more about NEPTUNE: https://www.neptune-study.org

29 MAG 2024 · New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Clinical Immunology on February 15, 2024, titled "Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia."  Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1521661624000536?via%3Dihub Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org

24 APR 2024 · New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Calcified Tissue International on March 12, 2024, titled "Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta."  Read the paper here: https://link.springer.com/article/10.1007/s00223-024-01188-2 Learn more about BBDC: https://bbd.rarediseasesnetwork.org

24 APR 2024 · New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Quantitative Imaging in Medicine and Surgery on January 23, 2024, titled "Quantification of enlarged deep medullary vein volumes in Sturge-Weber syndrome."  Read the paper here: https://qims.amegroups.org/article/view/121041/html Learn more about BVMC: https://bvmc.rarediseasesnetwork.org

24 APR 2024 · New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Proteomics on March 12, 2024, titled "Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts."  Read the paper here: https://analyticalsciencejournals.onlinelibrary.wiley.com/doi/10.1002/pmic.202400012 Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org

24 APR 2024 · New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Cell Reports on March 1, 2024, titled "Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models."  Read the paper here: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)00211-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2211124724002110%3Fshowall%3Dtrue Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org