Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat [0.03%]
将治疗戈谢病的疗法改用到 sapoc缺乏症的治疗：以 eliglustat为例的概念验证研究
Carmen Minea,Patrick B Deegan
Carmen Minea
Saposin C (Sap C) deficiency (GDSAPC, OMIM #610539, ORPHA:309252) is an ultra-rare autosomal recessive disorder caused by mutations in the PSAP gene. Sap C functions as an essential activating cofactor of glucosylceramidase (GCase) and faci...
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada [0.03%]
使用加拿大真实世界数据开发和验证长链脂肪酸氧化障碍的临床严重程度评分
Randa Sultan,Anastasia Ambrose,Shalini Bahl et al.
Randa Sultan et al.
Introduction: Mitochondrial long-chain fatty acid oxidation (LC-FAO) disorders (LC-FAOD) are inherited metabolic disorders. Real-World-Data (RWD) contributes to Real-World-Evidence (RWE) for LC-FAOD, as prospective natura...
Viktoria Bea Horvath,Konstantinos Tsiakas,Heiko Brennenstuhl et al.
Viktoria Bea Horvath et al.
Transaldolase deficiency is a rare metabolic disease caused by pathogenic variants in the TALDO1 gene. Transaldolase plays an important role in the ribose-5-phosphate production, maintaining the NADPH-dependent lipid biosynthesis and cellul...
The goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trial [0.03%]
原发性线粒体疾病中戈尔茨坦目标实现量表的构建效度及随机对照试验中的经验教训
Kristofoor E Leeuwenberg,Joanna IntHout,Jan T Groothuis et al.
Kristofoor E Leeuwenberg et al.
Background: Primary mitochondrial diseases (PMD) are rare heterogeneous disorders caused by defective oxidative phosphorylation, with symptoms varying widely between individuals with PMD. Despite extensive research, no co...
Design of a Pediatric Low Motor Function Item Battery in leukodystrophies [0.03%]
应用于儿科低运动功能病人的量表设计——以遗传性脑白质病变患者为例
Francesco Gavazzi,Sarah Woidill,Anjana Sevagamoorthy et al.
Francesco Gavazzi et al.
Leukodystrophies are rare genetic disorders that disrupt myelin formation in the central nervous system, leading to a broad range of neuromotor impairment. Standard assessment tools, including the Gross Motor Function Measure-88 (GMFM-88), ...
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach [0.03%]
佩加利塞相关皮肤问题的管理：采用改良德尔菲法的最佳实践建议
Alvaro Hermida Ameijeiras,Erika Vucko,Cary O Harding et al.
Alvaro Hermida Ameijeiras et al.
Introduction: The approval of pegvaliase (PALYNZIQ®) represented a paradigm shift in the management of phenylketonuria (PKU) by enabling sustained reductions in blood phenylalanine levels and permitting an unrestricted d...
Age-dependent reference intervals for cerebrospinal fluid and urine biomarkers of mucopolysaccharidoses [0.03%]
用于黏多糖贮积症脑脊液和尿液生物标志物的年龄依赖性参考区间
Candice B Herber,Shaohua Xiao,Deborah S Gho et al.
Candice B Herber et al.
Mucopolysaccharidoses (MPSs) are characterized by deficient activity of lysosomal hydrolase enzymes, leading to progressive accumulation of glycosaminoglycans. These glycosaminoglycans can be assayed in biofluids as potential markers of dis...
A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study [0.03%]
突尼斯PMM2-CDG患者的创始人变异：一项临床、影像学、生化和遗传综合研究
Lilia Kraoua,Thouraya Ben Younes,Monia El Asmi et al.
Lilia Kraoua et al.
PMM2-CDG is the most common congenital disorder of glycosylation, characterized by a broad phenotypic spectrum involving the nervous system and multiple other organ systems. The disorder is caused by biallelic variants in the PMM2 gene, lea...
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review [0.03%]
新生儿筛查中迟发性庞贝病的发病机制及系统性综述
Myriam Boueri,Jessica Doxey,Tracy Boggs et al.
Myriam Boueri et al.
Context: Late-onset Pompe disease (LOPD) is a lysosomal disease characterized by progressive weakness primarily in skeletal and respiratory muscles with symptom onset ranging from infancy to adulthood. The distinguishing ...
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease [0.03%]
从基因型到表型：CLPB相关线粒体疾病63例患者的同卵双胞胎特异性见解
Oliver Heath,Francisco Del Caño-Ochoa,Safa Baris et al.
Oliver Heath et al.
Background: CLPB-related mitochondrial disease causes congenital neutropenia, developmental delay/intellectual disability, progressive brain atrophy, movement disorders, cataracts, and 3-methylglutaconic aciduria. Both mo...