Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria [0.03%]
Egoo试验在苯丙酮尿症女性患者中测量苯丙氨酸水平的性能评估
Meriah S Schoen,Serei Vatana Nath,Rani H Singh
Meriah S Schoen
Background: Accurate measurement of phenylalanine (Phe) is a requirement for the diagnosis and management of individuals with Phenylketonuria (PKU). The current methods for quantifying Phe, plasma amino acids, and dried b...
Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China [0.03%]
中国单中心瓜氨酸亚硫酸盐赖氨酶缺乏症患者的临床生化和基因特征
Kaichuang Zhang,Deyun Lu,Lili Liang et al.
Kaichuang Zhang et al.
Background: Argininosuccinate lyase deficiency (ASLD) is a rare autosomal recessive urea cycle disorder (UCD) resulting from mutations in the ASL gene. Previous studies of ASLD in patients from China have predominantly be...
Leonie Franziska Keidel,Neringa Jurkute,Benedikt Schworm et al.
Leonie Franziska Keidel et al.
Background: The aim of this study was to investigate the neuroretinal structure of patients with the lysosomal storage disease cystinosis. Methods: ...
Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening [0.03%]
开发一种可解释的机器学习模型以预测新生儿筛查中的假阴性柠檬酸盐缺乏症病例
Peiyao Wang,Haomin Li,Xinjie Yang et al.
Peiyao Wang et al.
Background: Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) is an autosomal recessive disorder affecting the urea cycle and energy metabolism. Newborn screening (NBS) usually relies on elevated citru...
Rare case of longevity in Hutchinson-Gilford progeria syndrome and literature review [0.03%]
Hutchinson-Gilford早老症罕见的长寿病例及文献回顾
Xiao-Ling Cai,Hang Chen,Xue-Qin Lin et al.
Xiao-Ling Cai et al.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant disorder characterised by premature ageing, with an average life expectancy of 14.6 years. We report a case of HGPS associated with a typical C. 1824 C > T (P. Gly608G...
Currently managed US prevalence of cutaneous venous malformations (cVMs): a nationally representative, retrospective, real-world, subject-blinded, physician-observational probability study [0.03%]
美国皮肤静脉畸形的当前患病率：一项全国代表性的回顾性、真实世界、受试者盲法、医师观察性概率研究
Jack Ray Gallagher,Susan Carroll,Jeffrey Martini et al.
Jack Ray Gallagher et al.
Background: Cutaneous venous malformations (cVMs) are rare vascular anomalies characterized by progressive vessel ectasia, leading to disfigurement, pain, ulceration, and bleeding. These lesions often evade early detectio...
Observational Study
Orphanet journal of rare diseases. 2025 Oct 7;20(1):504. DOI:10.1186/s13023-025-03995-8 2025
X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab [0.03%]
X连锁低磷血症和肿瘤诱导性骨软化症：布罗舒马布时代诊断与治疗挑战的综述及专家意见
Maria Luisa Brandi,Cristina Eller Vainicher,Danilo Fintini et al.
Maria Luisa Brandi et al.
Unraveling the mystery of alien hand syndrome: when your hand has a mind of its own [0.03%]
解开外星人手综合征之谜：当你的手有了自己的意识
Khaled Moghib,Trisha Shivashankar,Thoria I Essa Ghanm et al.
Khaled Moghib et al.
Background: Alien Hand Syndrome (AHS) is a rare neurological disorder characterized by involuntary, complex movements of a limb, often with a sense of estrangement from the affected hand. Initially described in 1908, AHS ...
Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management [0.03%]
遗传性代谢病患儿对长期治疗和代谢急性发病管理的视角
Tanjana Harings,Thilo Bertsche,Alena Gerlinde Thiele et al.
Tanjana Harings et al.
Background: Long-term treatment and emergency management are essential in most pediatric patients with inborn errors of metabolism (IEM). In routine care, these patients receive age-appropriate education to support adhere...
Mohammad Shboul,Mohammed El-Khateeb,Rajaa Fathallah
Mohammad Shboul
Background: Glycogen storage diseases (GSDs) are a group of hereditary metabolic disorders caused by defects in biosynthesis, and storage of glycogen that affect various organs, such as liver, muscles, and heart. Approxim...