Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis [0.03%]
药房调配鹅去氧胆酸胶囊治疗脑腱黄瘤病患者的疗效及安全性
Natalja Bouwhuis,Soumia Majait,Yasmin Polak et al.
Natalja Bouwhuis et al.
Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA cap...
Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency [0.03%]
SRD5A3缺乏症导致的血清N-聚糖蛋白严重寡糖化异常
Anu Jain,Rohit Budhraja,Kishore Garapati et al.
Anu Jain et al.
Polyprenal reductase is an enzyme encoded by the SRD5A3 gene, which is involved in the synthesis of dolichol from polyprenol. Dolichol serves as a carrier for glycan precursors or monosaccharides in N-linked glycosylation. Pathogenic varian...
Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening [0.03%]
newborn筛查发现的维生素B12C型缺乏症患者的早期干预对其发育及眼底血管病变的影响研究
Anna T Reischl-Hajiabadi,Laura Guilder,Michal Inbar-Feigenberg et al.
Anna T Reischl-Hajiabadi et al.
Despite the implementation of newborn screening (NBS), developmental outcomes in individuals with Cobalamin C (CblC) deficiency remain variable, and ocular manifestations are common. Therapy with hydroxocobalamin (OH-Cbl) is recommended by ...
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up [0.03%]
用于芳香族L-氨基酸脱羧酶缺乏的儿科患者鼻基底给药Eladocagene exuparvovec治疗的药代动力学、疗效和安全性：使用磁共振兼容穿刺针为期48周的随访研究
Daniel J Curry,Phillip L Pearl,Scellig S D Stone et al.
Daniel J Curry et al.
Aromatic ʟ-amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed...
Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry [0.03%]
关于Gaucher病患者的母体和胎儿结局：来自国际Glucocerebrosidase协作组妊娠亚组的证据
Shoshana Revel-Vilk,Patrick Deegan,Debra Day-Salvatore et al.
Shoshana Revel-Vilk et al.
Untreated women with Gaucher disease (GD) are at an increased risk of GD-related complications during pregnancy. Enzyme replacement therapy with imiglucerase is effective at improving hematologic, visceral, and bone manifestations of GD, an...
Laura Winiger,Raphaela Muri,Tobias Kaufmann et al.
Laura Winiger et al.
Structural brain alterations have been observed in individuals with phenylketonuria (PKU); however, the potential impact of PKU on brain aging remains unexplored. This study investigated brain age in adults with early-treated classical PKU ...
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases [0.03%]
专家设计的事实表格和基于人工智能的患者症状分析，以对抗遗传性代谢疾病诊断延迟
Aline Cano,Xiaoyi Chen,Azza Khemiri et al.
Aline Cano et al.
The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosi...
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data [0.03%]
新生儿筛查分析数据直接预测VLCADD严重程度
Marit Schwantje,Rose E Maase,Eugenie Dekkers et al.
Marit Schwantje et al.
A critical concern of newborn screening (NBS) for very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is the difficulty of predicting clinical outcomes. To address this, we investigated neonatal C18:2-carnitine concentrations as a po...
Carla E M Hollak,Noa Rosenberg,Colinda Post et al.
Carla E M Hollak et al.
Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and a...
Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris [0.03%]
科摩罗群岛上严重的精氨酸酶1缺乏症：与巴黎的10例患者相比马约特岛的17名患者的临床、神经影像和分子特征
Aurélie de Bruyne,Apolline Imbard,Charles-Joris Roux et al.
Aurélie de Bruyne et al.
Arginase 1 deficiency (ARG1D) is the least common urea cycle disorder. Neonatal onset is rarely described, and hyperammonemic coma is less common in patients with ARG1D compared to other urea cycle disorders. In recent years, we diagnosed a...
Comparative Study
Journal of inherited metabolic disease. 2026 Mar;49(2):e70159. DOI:10.1002/jimd.70159 2026