Adrenal hypoplasia congenita

别名

AHC、Congenital adrenal hypoplasia、Primary adrenal hypoplasia

近两年的全球研究 127L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-09开放获取
  Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2026-09综述开放获取
  How Ocean Acidification Makes Marine Fish Reproduction Vulnerable: Physiological Mechanisms and Ecosystem Consequences
  Toxics · DOI · Europe PMC
• 2026-09病例报告开放获取
  Case Report: Proportionate short stature in a three-generation family harboring <i>FGFR3</i> N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-08开放获取
  Vividness of visual imagery is associated with perceived clarity of recall but not with accuracy during exams
  Frontiers in psychology · DOI · Europe PMC
• 2026-08病例报告开放获取
  Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-08
  The Visual Imagery Visually Anchored Scale (VIVAS) reveals dissociable perceptual dimensions and category-specific structure
  Cortex; a journal devoted to the study of the nervous system and behav · DOI · Europe PMC
• 2026-08开放获取
  Quantification of appetite-regulating hormones in children with hypothalamic and common obesity
  Journal of the Endocrine Society · DOI · Europe PMC
• 2026-07病例报告开放获取
  Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-07开放获取
  Association of Ambroxol Hydrochloride and Clenbuterol Hydrochloride Oral Solution with Respiratory Symptom Improvement and Safety in Chinese Children with Pneumonia: A Real-World Propensity Score-Matched Study
  Infection and drug resistance · DOI · Europe PMC
• 2026-07开放获取
  Clinical Presentation and Early Outcomes of Congenital Endocrine Salt-Wasting Syndromes Unrelated to 21-Hydroxylase Deficiency
  Endocrinology, diabetes & metabolism · 被引 1 · DOI · Europe PMC
• 2026-07病例报告开放获取
  Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study
  Molecular genetics & genomic medicine · DOI · Europe PMC
• 2026-06
  DAX-1 in sex determination and gonadal development: revisiting the anti-testis hypothesis
  Endocrine reviews · DOI · Europe PMC
• 2026-06病例报告
  A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls
  Journal of pediatric endocrinology & metabolism : JPEM · DOI · Europe PMC
• 2026-06开放获取
  Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026
  Journal of Neuromuscular Diseases
• 2026-06开放获取
  Epidemiology of Childhood Cancer and Cancer Predisposition Syndromes (CPSs): A 20-Year Single-Center Cohort from the Greater Poland Region
  Children (Basel, Switzerland)
• 2026-05综述病例报告
  NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review
  Genes · DOI · Europe PMC
• 2026-05病例报告开放获取
  NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review
  Genes
• 2026-05开放获取
  Predicting visual mental imagery: structural and transcriptomic signatures in the human brain
  Communications biology · DOI · Europe PMC
• 2026-05
  X-linked Adrenal Hypoplasia Congenita: Diagnostic Clues and Novel NR0B1 Variants in Chinese Children
  Indian journal of pediatrics · DOI · Europe PMC
• 2026-05开放获取
  From dots to faces: individual differences in visual imagery capacity predict the content of Ganzflicker-induced hallucinations
  Neuroscience of consciousness · DOI · Europe PMC

中国境外的在招试验 5L2

共 5 项。

• 招募中NCT06669949
  Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
  观察性 · 2025/04/22University of California, San Francisco
  美国
• 招募中NCT04885179
  SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
  观察性 · 2025/04/22University of California, San Francisco
  美国
• 尚未开始招募NCT04252001
  Growing up With the Young Endocrine Support System (YESS!)
  不适用 · 干预性 · 2024/12/01dr. Laura C. G. de Graaff-Herder
  比利时、荷兰、西班牙、英国
• 招募中NCT01793168
  Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
  观察性 · 2010/07Sanford Health
  澳大利亚、美国
• 招募中NCT04569149
  Primordial Dwarfism Registry
  观察性 · 2008/03/11Nemours Children's Clinic
  美国

外部标识与链接