Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database [0.03%]
英国生物银行数据库中GLA基因变异相关弗莱博格氏症的临床和生化特征：来自46.9万例受检者的队列数据
Antonina Giammanco,Carola Maria Gagliardo,Chiara Scrimali et al.
Antonina Giammanco et al.
Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation of the X chromosome. While mo...
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring [0.03%]
探索PMM2-CDG的循环miRNA标志物：初步了解其在诊断、分层和监测中的作用
Florencia Epifani,Lluc Cabus,Gregorio A Nolasco et al.
Florencia Epifani et al.
Phosphomannomutase deficiency (PMM2-CDG) is the most common congenital disorder of glycosylation, characterized by variable early-onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi-organ manifestations. Altho...
Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study [0.03%]
经典半乳糖血症中的肌醇缺乏、脑结构改变和脑血流异常：一项多参数磁共振成像研究的初步见解
Eva Niess,Fabian Niess,Wolfgang Bogner et al.
Eva Niess et al.
Classic galactosemia is a rare metabolic disorder resulting from galactose-1-phosphate uridylyltransferase deficiency, which disrupts normal galactose metabolism, leading to toxic accumulation of galactose-1-phosphate and galactitol. Despit...
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study [0.03%]
日本成人尿素循环障碍患者现状：全国研究报告
Jun Kido,Johannes Häberle,Keishin Sugawara et al.
Jun Kido et al.
Urea cycle disorders (UCDs) are rare inherited metabolic diseases characterized by defective detoxification of nitrogen, leading to hyperammonemia and neurological complications. While pediatric UCDs have been extensively studied in Japan, ...
The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives [0.03%]
代谢性疾病的肝移植演变：从起源到现状
Andrea Pietrobattista,Diego Martinelli,Marco Spada et al.
Andrea Pietrobattista et al.
Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it no...
Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency [0.03%]
阿洛普鲁林治疗改善腺苷磺酸裂解酶缺乏症年轻患者的认知技能、适应行为及生化标志物
Bérangère Rousselot-Pailley,Michaela Semeraro,Fabienne Marquant et al.
Bérangère Rousselot-Pailley et al.
Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoim...
Priya S Kishnani,Catherine Rehder,Keiichi Ozono et al.
Priya S Kishnani et al.
Hypophosphatasia (HPP) is a rare, inherited monogenic disorder that is typically caused by variants in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Genetic testing for ALPL variant(s) to confirm the diagnosis in patients with su...
Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought? [0.03%]
遗传性代谢病的患病率或远高于预期
Nina B Gold,Alanna Strong,Harini Somanchi et al.
Nina B Gold et al.
"Genotype-first" approaches, studies that apply genomic sequencing in unselected cohorts of apparently healthy adults or infants, have begun to upend traditional notions about the prevalence and penetrance of inherited metabolic disorders. ...
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches [0.03%]
溶酶体病的筛查与诊断：生化及基因组方法
Matthew J Schultz,Patricia L Hall,Gisele Bentz Pino et al.
Matthew J Schultz et al.
More than 60 lysosomal disorders have been described to date, and continued advancements in molecular (i.e., next generation sequencing) and biochemical (i.e., mass spectrometry) genetic testing will increase this number. In parallel, the s...