Estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomAD v4.1.0 database [0.03%]
基于gnomAD v4.1.0数据库估算原发性纤毛运动障碍的遗传易感率
Rutao Dai,Ya Dao,Xichen Zhang et al.
Rutao Dai et al.
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder that is predominantly inherited in an autosomal recessive pattern and is caused by structural or functional ciliary abnormalities. Previous studies o...
Unraveling the role of lipid metabolism in ALS risk: a Mendelian randomization analysis using GWAS data [0.03%]
利用GWAS数据进行孟德尔随机化分析解码脂质代谢在ALS风险中的作用
Houwen Zhang,Chunrong Li,Jialin Yu et al.
Houwen Zhang et al.
Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Lipid metabolism is closely related to neuronal function and energy homeostasis, but the genetic association between specific lip...
Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study [0.03%]
苯酮尿症青少年和年轻成人中的性生活和生殖生活：一项横断面研究
Bożena Mikołuć,Dariusz Walkowiak,Dorota Korycińska-Chaaban et al.
Bożena Mikołuć et al.
Background: Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong treatment. While early diagnosis and dietary management have substantially improved neurocognitive outcomes, less is known about ...
Persistently low serum alkaline phosphatase in adults: prevalence and clinical characteristics in a large tertiary care hospital [0.03%]
成人血清碱性磷酸酶持续偏低的患病率及临床特征——一项大型三级医院的研究
Fahad Alshahrani,Sara Alsuliman,Reema Alkalefah et al.
Fahad Alshahrani et al.
Background: Alkaline phosphatase (ALP) plays an essential role in skeletal mineralization and bone metabolism. While elevated ALP levels are commonly investigated in clinical practice, persistently low ALP values are ofte...
French national diagnosis and care protocol (PNDS) for infantile idiopathic hypercalcemia (IIH) [0.03%]
法国全国性婴幼儿特发性高钙血症诊疗协议(PNDS IIH)
Cyril Amouroux,Valérie Porquet-Bordes,Elodie Adler et al.
Cyril Amouroux et al.
The objective of this study was to establish a French National Diagnosis and Care Protocol (PNDS: Protocole National de Diagnostic et de Soins), with the aim of providing health professionals with free, open access synthesis on optimal mana...
Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China [0.03%]
中国Sjögren-Larsson综合征患者的临床及基因分析
Feng Chen,Bowen Yu,Yangshuo Wang et al.
Feng Chen et al.
Objective: To characterize the clinical features and genetic spectrum of Chinese patients with Sjögren-Larsson syndrome (SLS). Methods: ...
Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review [0.03%]
评估法布雷病患者接受酶替代疗法时抗药物抗体与疗效和安全性结果之间关系的系统文献回顾
Patricio Aguiar,John A Bernat,Derralynn Hughes
Patricio Aguiar
Background: Fabry disease is a lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of globotriaosylceramide (Gb3) and widespread tissue and organ...
Temperature-sensitive auditory neuropathy: long-term follow-up and genotypic correlation [0.03%]
温度敏感性听神经病的长期随访及基因型相关性研究
Xin Zhou,Qiujing Zhang,Xiaolong Zhang et al.
Xin Zhou et al.
Background: Temperature-sensitive auditory neuropathy (TSAN) is a rare disease and a distinctive subtype of auditory neuropathy, characterized by fluctuating hearing thresholds and speech recognition influenced by body or...
Diagnostic delay, misdiagnosis, and patient-reported psychosocial burden among Chinese individuals with McCune-Albright syndrome: a national cross-sectional survey [0.03%]
中国人的McCune-Albright综合征诊断延迟、误诊及其心理社会负担的全国横断面调查
Ke Yuan,Yilin Zhu,Yonghua Chen et al.
Ke Yuan et al.
Background: McCune-Albright Syndrome (MAS) is a rare, mosaic genetic disorder characterized by fibrous dysplasia of bone, endocrine hyperfunction, and skin pigmentation. Despite increasing clinical recognition, real-world...
Methodology for eliciting consensus on high-level concepts in rare connective tissue and musculoskeletal diseases (ReCONNET-ELICIT) [0.03%]
罕见结缔组织和肌肉骨骼疾病高层概念共识形成的方法学（ReCONNET-ELICIT）
Laurent Arnaud,Guillermo Pons-Estel,Mariele Gatto et al.
Laurent Arnaud et al.
The ReCONNET-ELICIT methodology represents an innovative and systematic approach to gather expert consensus on complex, high-level concepts related to rare connective tissue and musculoskeletal diseases (rCTDs). Developed within the framewo...