Zoe Wolfenson,Gabriella Grois,Ruth F Hailemeskel et al.
Zoe Wolfenson et al.
Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12-transmembrane domain protein that exports the charged sugar N-ac...
Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity [0.03%]
酪氨酸羟化酶缺乏损害多巴胺能神经元轴浆运输、脑功能和可塑性
Tie-Jun Sten Shi,Kunwar Jung-Kc,Gong-Wei Lyu et al.
Tie-Jun Sten Shi et al.
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotra...
Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy [0.03%]
成人X连锁肾上腺脑白质营养不良临床表型的自然史及其生化关联
Julia Lier,Markus Ponleitner,Denny Popp et al.
Julia Lier et al.
X-linked adrenoleukodystrophy (X-ALD) is a rare monogenic disorder characterized by marked variability in clinical presentation, age at onset, and disease progression. A deeper understanding of its natural history and the relationship betwe...
Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort [0.03%]
法国35名患者甲基丙二酸血症移植后急性神经并发症的病例分析
Adélaïde Vissac,Eugénie Sarda,Charles-Joris Roux et al.
Adélaïde Vissac et al.
Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective...
M Scaglione,A Brassier,A Wiedemann et al.
M Scaglione et al.
Transaldolase (TALDO) deficiency has a well-characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter...
Multicenter Study
Journal of inherited metabolic disease. 2026 Mar;49(2):e70173. DOI:10.1002/jimd.70173 2026
Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers [0.03%]
高脂膳食和禁食对肝特异性糖原贮积病Ia型小鼠肝脏及血浆蛋白质组的影响：潜在蛋白标志物的发现
Ruiqi Xiao,Hilda I de Vries,Candelas Gross-Valle et al.
Ruiqi Xiao et al.
Glycogen storage disease type Ia (GSD Ia) is a rare autosomal recessive inherited disorder of carbohydrate metabolism, caused by a deficiency in glucose 6-phosphatase-α (G6PC1). Patients primarily suffer from failure to thrive, hepatomegal...
Advances in Therapeutics-Enzyme Replacement Therapy: Long-Term Evaluation and New Approaches [0.03%]
治疗进展-酶替代疗法：长期评估和新方法
Robin Lachmann
Robin Lachmann
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder was marketed more than 30 years ago. We now have licensed products for 12 different conditions, and for a number of conditions, up to three different preparations a...
Arif Ibrahim Ardisasmita,Edward Eelco Salomon Nieuwenhuis,Sabine Annemijn Fuchs
Arif Ibrahim Ardisasmita
Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have ...
Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study [0.03%]
饮食蛋白调节、肠道菌群和甲基丙二酸血症的代谢控制：一项前瞻性队列研究
Engin Köse,Berkay Yekta Ekren,Neslihan Doğulu et al.
Engin Köse et al.
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder caused by defective conversion of methylmalonyl-CoA to succinyl-CoA. Emerging evidence suggests that both dietary protein composition and intestinal microbiota influence me...
Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease [0.03%]
信号肽工程和密码子优化增强rAAV基因治疗法布雷病的α-gal a活性
Siwu He,Li Yang,Ke Wan et al.
Siwu He et al.
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A (α-Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosi...