Teresa Caballero,Carmen Alonso,María Luisa Baeza et al.
Teresa Caballero et al.
Background: Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1INH) is a genetic rare disease characterized by recurrent, transient and unpredictable episodes of cold, non-pruriginous oedema without associated ur...
Therapies for cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: a systematic review of 157 cases [0.03%]
治疗交界型大疱性表皮松解症的皮肤鳞状细胞癌的疗法：对157例患者进行的系统性回顾
Austin Hwang,Andie Kwon,Corinne H Miller et al.
Austin Hwang et al.
Background: Invasive cutaneous squamous cell carcinomas (cSCC) are a leading cause of death in recessive dystrophic epidermolysis bullosa (RDEB), a rare blistering genodermatosis. Outcomes of RDEB-cSCC therapies have prim...
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing [0.03%]
基于三重 Whole-Exome Sequencing 的表型和基因组分析：在中国神经发育障碍儿童队列中寻找病因
Ruohao Wu,Xiaojuan Li,Zhe Meng et al.
Ruohao Wu et al.
Background: Trio-based whole-exome sequencing (trio-WES) enables identification of pathogenic variants, including copy-number variants (CNVs), in children with unexplained neurodevelopmental delay (NDD) and neurodevelopme...
New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach [0.03%]
三维几何方法的新颅缝早闭和三角头诊断标准
Kevin Bloch,Maya Geoffroy,Maxime Taverne et al.
Kevin Bloch et al.
Background: Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional in...
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up [0.03%]
遗传性代谢病新生儿筛查计划22年的评估与随访：加利西亚地区的经验
María L Couce,María-Dolores Bóveda,Daisy E Castiñeiras et al.
María L Couce et al.
Background: There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in ...
A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS) [0.03%]
活化型磷脂酰肌醇-3-激酶δ综合征（APDS）的疾病负担的定性研究
Ian Hitchcock,Hanna Skrobanski,Elina Matter et al.
Ian Hitchcock et al.
Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the persp...
Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene [0.03%]
SLCO2A1基因相关慢性肠病中国患者的临床及遗传特征分析
Qing Shang,Yimin Dai,Jingyi Huang et al.
Qing Shang et al.
Background and aims: Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especia...
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies [0.03%]
意大利两位无关患者的复杂共济失调与一种新颖的MT-ATP6变异相关：病例报告及功能研究
Daniele Sala,Silvia Marchet,Lorenzo Nanetti et al.
Daniele Sala et al.
Background: MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the last step of oxidative phosphorylation...
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study [0.03%]
中国南方60例甲基丙二酸尿症的临床及遗传分析：单中心回顾性研究
Ling Su,Huiying Sheng,Xiuzhen Li et al.
Ling Su et al.
Background: Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show divers...
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus [0.03%]
复杂性淋巴管畸形的靶向治疗：曲马替尼和西罗莫司联合应用的有效性案例分析
Emmanuel Seront,Antoine Froidure,Nicole Revencu et al.
Emmanuel Seront et al.
Repurposing anticancer drugs to vascular malformations has significantly improved patient outcomes. Complex Lymphatic Anomalies (CLA) are part of the spectrum of lymphatic malformations (LMs) that share similar oncogenic mutations to cancer...