遗传性甲状旁腺机能减退

近两年的全球研究 10L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 10 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-03综述开放获取
  First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review
  Diseases (Basel, Switzerland) · DOI · Europe PMC
• 2026-01综述开放获取
  Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications
  Cells · 被引 3 · DOI · Europe PMC
• 2025-12综述
  Repurposing osteoporosis medications for other diseases: a narrative review by the European Calcified Tissue Society (ECTS)
  Bone · DOI · Europe PMC
• 2025-09
  Genetic screening in a large Chinese cohort of adult-onset non-surgical hypoparathyroidism
  Endocrine · DOI · Europe PMC
• 2025-07开放获取
  A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia
  American journal of human genetics · DOI · Europe PMC
• 2025-04综述开放获取
  Generation of parathyroid glands from pluripotent stem cells
  Endocrine journal · DOI · Europe PMC
• 2025-01开放获取
  SAT-746 Gain-of-Function CASR variants Identified as a Major Genetic Contributor of Non-Surgical Hypoparathyroidism: Findings from Over 300 Participants in a Sponsored Genetic Testing Program
  Journal of the Endocrine Society
• 2024-11
  Classification and epidemiologic analysis of 86 diseases in <i>China's Second List of Rare Diseases</i>
  Intractable & rare diseases research · 被引 3 · DOI · Europe PMC
• 2024-10开放获取
  8669 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study
  Journal of the Endocrine Society
• 2024-10开放获取
  9295 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study
  Journal of the Endocrine Society

中国境外的在招试验 13L2

共 13 项。

• 招募中NCT07083557
  Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)
  观察性 · 2027/01/01Bettina Mittendorfer
  美国
• 招募中NCT07284641
  Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
  II 期 · 干预性 · 2026/05/04Paul Szabolcs
  美国
• 招募中NCT07493096
  Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
  观察性 · 2026/03/01Healing Hope International
  美国
• 招募中NCT07643896
  The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
  观察性 · 2026/01/10BillionToOne Inc.
  美国
• 尚未开始招募NCT06445036
  Tunisian Clinical Registry on Hypoparathyroidism and Pseudo-hypoparathyroidism
  观察性 · 2025/02/27Dacima Consulting
  突尼斯
• 招募中NCT06645899
  Institution of an Italian Multicenter Database of Patients Affected by Hypoparathyroidism or Pseudohypoparathyroidism
  观察性 · 2024/11/04F.I.R.M.O. - Fondazione Italiana Ricerca sulle Malattie dell'Osso - Ente del Terzo Settore
  意大利
• 招募中NCT06081348
  Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
  II 期 · 干预性 · 2024/09/16Holland Bloorview Kids Rehabilitation Hospital
  加拿大
• 招募中NCT05664412
  Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome
  不适用 · 干预性 · 2023/10/20Stephan Eliez
  瑞士
• 招募中NCT05924347
  Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development
  观察性 · 2023/06/16UMC Utrecht
  荷兰
• 招募中NCT04639388
  Understanding of Psychotic Disorders in Children With 22q11.2DS
  不适用 · 干预性 · 2020/11/13Hôpital le Vinatier
  法国
• 招募中NCT04463316
  GROWing Up With Rare GENEtic Syndromes
  观察性 · 2018/10/01dr. Laura C. G. de Graaff-Herder
  荷兰
• 招募中NCT00556530
  Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
  观察性 · 2016/07Albert Einstein College of Medicine
  美国
• 招募中NCT00768820
  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
  IV 期 · 干预性 · 2001/05The Chaim Sheba Medical Center
  以色列

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