Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1-Deficient Myopathy [0.03%]
ADSS1缺陷性肌病结构和功能改变的多模态非侵入性生物标志物表征
Merve Koç Yekedüz,Raquel van Gool,Hanne van der Heijden et al.
Merve Koç Yekedüz et al.
Adenylosuccinate synthase 1 (ADSS1)-deficient myopathy is an ultra-rare disease characterized by progressive muscle dysfunction. The objective of this investigation was to employ a noninvasive biomarker approach to phenotype (fine-)motor sk...
Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I [0.03%]
黏蛋白贮积病I型的光学相干断层扫描诊断价值及生物标志物意义
Teck Boon Tew,Chin-Hsien Lin,Hsueh-Wen Hsueh et al.
Teck Boon Tew et al.
Sialidosis type I (ST-1) is a rare lysosomal storage disease (LSD) caused by NEU1 gene mutations, leading to progressive neurological and visual dysfunction. The classical macular cherry-red spot (CRS) is considered a hallmark ocular sign, ...
Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria [0.03%]
用于苯酮尿症患者检测苯丙氨酸的床旁生物传感器的实际应用研究
Corentin Gondrand,Anna T Reischl-Hajiabadi,Estelle Bonedeau et al.
Corentin Gondrand et al.
Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry...
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles [0.03%]
NPC1突变蛋白的不同 trafficking 表型揭示了胆固醇积累的不同的模式
Sanaa Abdelmalek Mahmoud,AhmedElmontaser Mergani,Maren von Köckritz-Blickwede et al.
Sanaa Abdelmalek Mahmoud et al.
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that affects approximately 1 in 100 000 live births. It is primarily caused by mutations in the NPC1 gene, which disrupts intracellular cholesterol t...
Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders [0.03%]
尿素循环障碍成人患者报告的生命质量
Curtis R Coughlin nd,John Barber,Chaya N Murali;Members of the Urea Cycle Disorders Consortium (UCDC);Greta Wilkening
Curtis R Coughlin nd
Multiple studies have assessed Health-Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self-reported HRQoL has ...
Diagnostic Accuracy of Exchangeable Copper for Grading the Severity of Wilson Disease [0.03%]
可交换铜诊断威尔森病严重程度的准确性
Clément Desjardins,Nouzha Oussedik-Djebrani,Mickael Alexandre Obadia et al.
Clément Desjardins et al.
Wilson disease (WD) diagnosis remains challenging due to variable biomarker performance across clinical presentations. Exchangeable copper (CuEXC) directly quantifies non-ceruloplasmin-bound copper (NCC), the pathogenic copper fraction. We ...
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review [0.03%]
儿童溶酶体贮积病神经发育功能照护者报告的综述性研究
Eileen M Gillan,Beth Leiro,Amanda Nagy et al.
Eileen M Gillan et al.
Caregiver-reported outcome measures (CROMs) complement clinical assessments of neurodevelopmental functions (NDF) in pediatric rare disease trials. This scoping review summarizes use of CROMs of NDF across bodily function, activity, and par...
A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF [0.03%]
一种新颖的多模态LC-MS/MS面板，用于脑脊液中神经代谢障碍的全面诊断
Stine Christ,Julia Rossmann,Sylvia Richter et al.
Stine Christ et al.
Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity comp...
Valentina Rava,Erica Cannone,Maura Francolini et al.
Valentina Rava et al.
Among primates the human brain is the largest in size, exhibiting a higher neuronal density and connectivity. The prolonged expansion and subsequent connectome reorganization of the human brain have been suggested to promote higher cognitiv...
Olivia S Garrett,Nicole H Smith,David J Cutler et al.
Olivia S Garrett et al.
As a group, patients with classic galactosemia (CG) demonstrate a high prevalence of long-term complications despite early detection and life-long dietary restriction of galactose, which is the current standard of care. Individual outcomes,...