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

24 APR 2024 · New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the European Journal of Neurology on February 26, 2024, titled "Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A."  Read the paper here: https://onlinelibrary.wiley.com/doi/10.1111/ene.16199 Learn more about INC: https://inc.rarediseasesnetwork.org

24 APR 2024 · New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in The Journal of Immunology on March 1, 2024, titled "A Noncanonical CD56dimCD16dim/− NK Cell Subset Indicative of Prior Cytotoxic Activity Is Elevated in Patients with Autoantibody-Mediated Neurologic Diseases."  Read the paper here: https://journals.aai.org/jimmunol/article-abstract/212/5/785/266624/A-Noncanonical-CD56dimCD16dim-NK-Cell-Subset?redirectedFrom=fulltext Learn more about MGNet: https://mgnet.rarediseasesnetwork.org

24 APR 2024 · New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on January 28, 2024, titled "Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A  Primary Immune Deficiency Treatment Consortium study."  Read the paper here: https://www.jacionline.org/article/S0091-6749(24)00081-2/abstract Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org

24 APR 2024 · New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Genetics in Medicine on December 3, 2023, titled "Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders."  Read the paper here: https://www.gimjournal.org/article/S1098-3600(23)01055-9/fulltext Learn more about UCDC: https://ucdc.rarediseasesnetwork.org

24 APR 2024 · New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on December 10, 2023, titled "Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders."  Read the paper here: https://www.sciencedirect.com/science/article/pii/S1096719223007424?via%3Dihub Learn more about UCDC: https://ucdc.rarediseasesnetwork.org

22 MAR 2024 · New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the Journal of Clinical Psychology in Medical Settings on January 28, 2024, titled "Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study."  Read the paper here: https://link.springer.com/article/10.1007/s10880-023-09991-z Learn more about BBDC: https://bbd.rarediseasesnetwork.org