Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study [0.03%]
Sema Kalkan Uçar,Neslihan Önenli Mungan,Gülden Fatma Gökçay et al.
Sema Kalkan Uçar et al.
Neutrophil dysfunction and neutropenia are burdensome findings in glycogen storage disease type Ib (GSDIb). Treatment with granulocyte-colony stimulating factor (G-CSF) often corrects neutropenia but fails to improve clinical symptoms like ...
Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals [0.03%]
Kexin Fu,Yonglin Huang,Valerie Bowen et al.
Kexin Fu et al.
Barth syndrome (BTHS; OMIM 302060) is an ultra-rare, life-limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progr...
Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status [0.03%]
Dolores Garcia-Arenas,Aida Ormazabal,Paula Isern et al.
Dolores Garcia-Arenas et al.
Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with ...
Comparative Study
Journal of inherited metabolic disease. 2026 May;49(3):e70196. DOI:10.1002/jimd.70196 2026
Short-Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III [0.03%]
短期内口服亚精胺可改善果蝇和MPS III小鼠模型中的神经退行性特征
Helen Beard,Sonia Dayan,Karissa Barthelson et al.
Helen Beard et al.
Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of de...
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results [0.03%]
酸性鞘氨醇酮基转移酶缺乏症成人患者接受olipudase alfa酶替代治疗长达5年后临床结果持续改善：ASCEND研究最终结果
Melissa P Wasserstein,Carla E Hollak,Antonio Barbato et al.
Melissa P Wasserstein et al.
Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ER...
Randomized Controlled Trial
Journal of inherited metabolic disease. 2026 May;49(3):e70192. DOI:10.1002/jimd.70192 2026
Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review [0.03%]
核黄素治疗遗传性代谢病的疗效：系统综述
Bregje Jaeger,Nina N Stolwijk,Femke Aaldering et al.
Bregje Jaeger et al.
Riboflavin (RF, vitamin B2) is an essential vitamin of which the co-factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not...
Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction [0.03%]
用低剂量rAAV2/8介导的肝基因治疗表达密码子优化的人GLA cDNA的小体染病小鼠能长期纠正病情
Himanshi Saxena,Rossana Domenis,Giulia Romano et al.
Himanshi Saxena et al.
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, which encodes for Alpha Galactosidase-A (α-Gal A). α-Gal A deficiency leads to glycosphingolipid accumulation, like globotriaosylceramide (G...
Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study [0.03%]
苯酮尿症患者的疾病负担及药物治疗模式：一项真实世界匹配队列研究
Nicola Longo,Barbara K Burton,Shailja Vaghela et al.
Nicola Longo et al.
Phenylketonuria (PKU) is caused by defective catabolism of phenylalanine (Phe), resulting in Phe accumulation and subsequent neurocognitive impairment. This retrospective study used a large United States claims database linked to laboratory...
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C [0.03%]
2025年Niemann-Pick病型C临床管理共识指南
Tarekegn Hiwot,Forbes D Porter,Tatiana Bremova-Ertl et al.
Tarekegn Hiwot et al.
In 2018, the International Niemann-Pick Disease Alliance (INPDA) and the International Niemann-Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pat...
Practice Guideline
Journal of inherited metabolic disease. 2026 May;49(3):e70185. DOI:10.1002/jimd.70185 2026
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies [0.03%]
氨酰-tRNA合成酶：变异分类、功能检测及新兴治疗策略
M I Mendes,D E Smith,V Spek et al.
M I Mendes et al.
Aminoacyl-tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear-encoded ARS genes, comprising both cytosolic (ARS1) and mitochondri...