Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis [0.03%]
尼朱布甘露聚糖二糖酶类似物Nizubaglustat的治疗效果研究——以GM2gangliosidosism小鼠模型为例
Kyle Landskroner,Kshitiz Singh,Melissa Mitchell et al.
Kyle Landskroner et al.
Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non-lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare l...
Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes [0.03%]
异基因移植不能纠正早期诊断的黏多糖贮积病二型（患者输入非携带者的造血细胞）
Nathan Jeffreys,Raheej Shamim Khan,Jane Kinsella et al.
Nathan Jeffreys et al.
Sialidosis, also known as Mucolipidosis Type I, is a rare condition caused by defects in the NEU1 gene which causes the accumulation of sialylated peptides, oligosaccharides, and glycoproteins leading to neurological decline. Haematopoetic ...
Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1 [0.03%]
戊二酸尿症I型的外周神经病变扩大了其神经系统表型
Fabian Preisner,Sven F Garbade,Inga Harting et al.
Fabian Preisner et al.
Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous ...
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies [0.03%]
遗传性无机焦磷酸盐缺乏综合征的脂质代谢改变：见解与争议的叙事性回顾
Robbe Derudder,Olivier M Vanakker
Robbe Derudder
Pathological ectopic calcification of soft tissues can arise from reduced or absent levels of inorganic pyrophosphate (PPi), a key inhibitor of calcium hydroxyapatite deposition in soft connective tissues. The role of PPi in regulating mine...
From Justification to Legitimacy: A Deliberative Framework for Decisions Around Expensive Drugs for Rare Diseases [0.03%]
从正当性到合法性：围绕昂贵的罕见病药物决策的商谈框架
Bashir Jiwani
Bashir Jiwani
Decisions about expensive drugs for rare diseases (EDRDs) raise complex ethical challenges beyond the allocation of limited healthcare resources. This paper examines the ethical dimensions of EDRD decision-making, arguing that the framing o...
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series [0.03%]
从新生儿脑病到成人存活：D-双功能蛋白缺乏症自然史的多中心国际病例系列回顾分析
U Diaz-Moreno,S L C Brothwell,A Darling et al.
U Diaz-Moreno et al.
D-bifunctional protein deficiency (DBP-D) is a rare autosomal recessive peroxisomal disorder caused by biallelic pathogenic HSD17B4 variants. Its clinical spectrum ranges from severe neonatal-onset encephalopathy to milder, juvenile-onset f...
Multicenter Study
Journal of inherited metabolic disease. 2026 Jan;49(1):e70118. DOI:10.1002/jimd.70118 2026
From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism [0.03%]
从控制到优化：蛋白质代谢遗传性错误疾病营养管理策略的演变
Júlio César Rocha,Anne Daly,Anita MacDonald
Júlio César Rocha
Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing...
Persistent Activation of Renal Autophagy Contributes to Nephropathy in Murine Glycogen Storage Disease Type Ia [0.03%]
小鼠I型糖原贮积病肾脏自噬流持续活化导致肾损伤
Cheol Lee,Kunal Pratap,Sudeep Gautam et al.
Cheol Lee et al.
Kidney disease in glycogen storage disease type Ia (GSD-Ia), deficient in glucose-6-phosphatase-α (G6Pase-α), is associated with acute kidney injury (AKI) and renal fibrosis. During AKI, autophagy is typically activated to eliminate prote...
Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much? [0.03%]
严重的甲基丙二酸血症和丙酸血症的营养管理：医用食品摄入过多是什么时候？
Diane Margoses,Apolline Imbard,Clément Pontoizeau et al.
Diane Margoses et al.
Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long-term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) ...
Identification of Cepharanthine as a Potential Therapy of Acid Sphingomyelinase Deficiency by Reducing Cellular Sphingosylphosphorylcholine [0.03%]
通过减少细胞鞘氨醇磷胆碱识别秋水仙碱可作为酸性鞘磷脂酶缺乏症潜在治疗药物
Mengni Yi,Jiayue Hu,Xia Zhan et al.
Mengni Yi et al.
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by loss-of-function variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene encoding for the acid sphingomyelinase (ASM). Aberrantly high levels of sphing...