Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran [0.03%]
通过新生儿筛查在伊朗发现ACADSB的新变异用于2-甲基丁酰辅酶A脱氢酶缺乏症的无症状期诊断
Maryam Nasri,Nejat Mahdieh,Farzaneh Abbasi et al.
Maryam Nasri et al.
Background: 2-Methylbutyryl-CoA dehydrogenase deficiency (2-MBDD), also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a rare inborn error of metabolism classified as an organic acidemia. Earl...
A study on the nutritional status and body composition of children with Hutchinson-Gilford progeria syndrome [0.03%]
Hutchinson-Gilford早老症儿童营养状况与体成分的研究
Qinmei Yu,Jingjing Wang,Haidong Fu et al.
Qinmei Yu et al.
Objective: Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by premature aging, severe growth retardation, and metabolic abnormalities. This study aimed to evaluate the growth, nutritio...
Jean Martial Kouame,Simon LaRue,Camille Varin-Tremblay et al.
Jean Martial Kouame et al.
Bridging the gap: sex-specific differences in Huntington's disease [0.03%]
从性别差异的角度研究亨廷顿舞蹈病的发病机制及治疗靶点
Greta Hemicker,Katarína Schwarzová,Samuel Labrecque et al.
Greta Hemicker et al.
Six-minute walk distance predicting the risk of mortality in lymphangioleiomyomatosis patients [0.03%]
6分钟行走距离预测淋巴管肌瘤病患者的死亡风险
Luning Yang,Xiaoxin Zhang,Luyi Wang et al.
Luning Yang et al.
Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition [0.03%]
成人期苯酮尿症的代谢结局、生活质量和心理健康状况过渡后4.5年时的适应情况
Antonia Albers,Nadine Kuniß,Christof Kloos et al.
Antonia Albers et al.
Introduction: Adult care for individuals with phenylketonuria (PKU) remains limited, as many centers prioritize pediatric patients. Structured transition into adult care is essential to maintain metabolic stability, adher...
Living with adrenoleukodystrophy: adult patient and caregiver perspectives [0.03%]
腺苷脑脊髓病的日常生活：成人患者和护理人员的观点
Amena Smith Fine,Kathleen O&#x; Sullivan-Fortin,Kelly Miettunen et al.
Amena Smith Fine et al.
Introduction: Adrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions. We report on an Externally-Led Patient-Focused Drug De...
Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes [0.03%]
脊髓性肌萎缩症疾病修正治疗后的吞咽和进食：评估方法与结局的系统评价
Yasmina Martí,Ksenija Gorni,Sandhya Kumari et al.
Yasmina Martí et al.
Background: Feeding and swallowing deficits are reported across the spectrum of spinal muscular atrophy (SMA), with more profound symptoms associated with more severe disease. Patients treated with disease-modifying thera...
Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study [0.03%]
一项关于第一型Gaucher病的病例对照队列研究：瞬时弹性成像（FibroScan）评估肝脏和脾脏硬度以及肝脂肪变性的影响
Ummu Mutlu,Bilger Cavus,Hulya Hacisahinogullari et al.
Ummu Mutlu et al.
Introduction: Gaucher disease (GD) is a lysosomal storage disorder characterized by glucosylceramide accumulation, which may lead to liver fibrosis and cirrhosis. Enzyme replacement therapy (ERT) could reverse fibrosis. T...
Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022 [0.03%]
2009至2022年罕见病新生儿基因筛查（gNBS）的偏爱、态度和观点的文献系统综述及合成
Sylvia Martin,Gergana Kyosovska-Peshtenska,Jennifer Audi et al.
Sylvia Martin et al.