D Quelhas,C R Ferreira,J Jaeken
D Quelhas
Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, ...
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease [0.03%]
晚发型庞贝病早期肌肉受累的定量磁共振生物标志物研究
Michele G Croce,Leonardo Barzaghi,Matteo Paoletti et al.
Michele G Croce et al.
Early treatment in late-onset Pompe disease (LOPD) increasingly depends on detecting subclinical muscle involvement. Quantitative muscle MRI (qMRI) has emerged as a promising tool in this context. We conducted a multicenter prospective stud...
Multicenter Study
Journal of inherited metabolic disease. 2026 Jan;49(1):e70145. DOI:10.1002/jimd.70145 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey [0.03%]
长链脂肪酸氧化障碍患者的妊娠：一项欧洲和北美洲调查的结果
Sarah C Grünert,Mirjam Langeveld,Lisa Rudolph et al.
Sarah C Grünert et al.
Long-chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment,...
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency [0.03%]
GMPPB-CDG导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏
Carla Damiano,Antonietta Tarallo,Vincenza Gragnaniello et al.
Carla Damiano et al.
GDP-mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP-mannose synthesis, an early step in multiple glycosylation pathways, including N-...
Energy Metabolism Under Stress: Late-Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice [0.03%]
应激状态下的能量代谢：Ndufs4基因敲除小鼠晚期莱氏综合征显示出严重的心血管及代谢紊乱
Karin Terburgh,Nastassja Sweeney,Roan Louw
Karin Terburgh
The deficiency of mitochondrial complex I (CI), a key regulator of cellular energy homeostasis and metabolic flexibility, is a prevalent driver of cardiovascular pathology in mitochondrial disorders. The Ndufs4 knockout (KO) mouse model of ...
Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care [0.03%]
溶酶体贮积病(LSDs)的自然史地图：以戈谢病精准治疗模型为例
Noor Ul Ain,Maya Vaishnaw,Pramod K Mistry
Noor Ul Ain
Natural-history datasets have become pivotal for drug development and for shaping clinical-practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objec...
The History and Nosology of the Glycine Disorders: A Framework for Clinicians [0.03%]
甘氨酸疾病的历史和分类：临床医生的框架
Arthavan Selvanathan,Ashley Hertzog,Curtis R Coughlin nd et al.
Arthavan Selvanathan et al.
Despite its simple chemical structure, glycine plays a complex role in the body. The glycine cleavage system regulates brain glycine levels and is a key one-carbon donor to folate. Its metabolism is tightly integrated with that of serine. I...
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults [0.03%]
成人脑白质营养不良伴严重脑叶型维生素B12缺乏的基因缺陷研究
Daniele Mandia,Metodi D Metodiev,Jean-François Benoist et al.
Daniele Mandia et al.
MRPS genes, which encode components of the small mitoribosomal subunit, have not been previously linked to adult-onset neurological diseases. These genes play a critical role in mitochondrial translation and the biogenesis of the oxidative ...
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1 [0.03%]
从分子到意义：GM1神经病标志物及临床相关性
Krista Casazza,Roberto Giugliani,Debra S Regier et al.
Krista Casazza et al.
GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essentia...
Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts [0.03%]
恩来米肽改善线粒体三功能蛋白缺陷小鼠和人成纤维细胞的线粒体功能
Eduardo Vieira Neto,Meicheng Wang,Austin J Szuminsky et al.
Eduardo Vieira Neto et al.
Mitochondrial trifunctional protein (TFP) deficiency is an inherited disorder of long-chain fatty acid β-oxidation (FAO). TFP is a heteromeric enzyme composed of two α and two β-subunits. Despite early detection and dietary treatment, TF...