Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestations [0.03%]
COG缺陷所致复发性噬血细胞性淋巴组织细胞增生症的病例系列及系统性综述
Antoine de Laitre,Magalie Barth,François Labarthe et al.
Antoine de Laitre et al.
Background: Conserved oligomeric Golgi (COG) deficiencies are rare congenital disorders of glycosylation characterized by severe multisystem involvement. Recurrent inflammatory episodes have been reported but remain poorl...
Corrigendum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol. Genet. Metab. 148(2) (2026) 109906] [0.03%]
关于“谷氨酰胺酶缺乏为谷氨酰胺积累和神经毒性的作用提供了见解”一文的勘误(分子遗传学与代谢第148卷(2)篇(2026)109906)[代谢组学在临床实验室中的应用：先天性代谢病的筛查、诊断及监测]
André B P van Kuilenburg,Hanna Mandel,Tameemi Abdalla Moady et al.
André B P van Kuilenburg et al.
Published Erratum
Molecular genetics and metabolism. 2026 Jun 8;148(4):110165. DOI:10.1016/j.ymgme.2026.110165 2026
Analysis of clinical pedigree characteristics in Chinese patients with ataxia with vitamin E deficiency [0.03%]
维生素E缺乏共济失调的中国患者临床家系特点分析
Pu Lv,Lu Liu,Ying Hao et al.
Pu Lv et al.
The clinical and genetic features of ataxia with isolated vitamin E deficiency (AVED) patients in Chinese are remain not well understood. We enrolled 120 unrelated probands with clinically suspected autosomal recessive cerebellar ataxia (AR...
Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment [0.03%]
苯丁酸治疗可改善Snyder-Robinson综合征淋巴母细胞的代谢异常
Xianzun Tao,Bridgette Allen,Ethan Wilson et al.
Xianzun Tao et al.
Snyder-Robinson syndrome (SRS) is an X-linked polyaminopathy caused by pathogenic variants in the spermine synthase (SMS) gene, resulting in impaired spermine synthesis, accumulation of spermidine, and widespread cellular dysfunction. Altho...
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis [0.03%]
四氢生物蝶呤治疗苯酮尿症的真实世界研究：一项单中心回顾性分析
Erika R Vucko,Katie Arduini,Karen Becker et al.
Erika R Vucko et al.
Background: Phenylketonuria (PKU) is an inborn error of metabolism caused by phenylalanine hydroxylase (PAH) deficiency. Sepiapterin, the most recently FDA-approved therapeutic for PKU, is indicated for sepiapterin-respon...
Prevalence and clinical impact of gastrointestinal symptoms in patients with cystinosis [0.03%]
胱氨酸病患者的胃肠症状的患病率及其临床影响
A de Vreugd,M L van Campen,E A M Cornelissen et al.
A de Vreugd et al.
Background: Cystinosis is a rare autosomal recessive lysosomal storage disease caused by mutations in the CTNS gene, resulting in lysosomal cystine accumulation and multisystem complications, including most notably kidney...
Resources and care structures for management of urea cycle disorders in Japan and the United States: A system-level comparison [0.03%]
日本和美国尿素循环障碍的资源和护理结构：系统层面比较
Yoko Nakajima,Erin MacLeod,Konomi Hirano et al.
Yoko Nakajima et al.
Background: Urea cycle disorders (UCD) are rare, nutrition-dependent inborn errors of metabolism in which outcomes depend on pharmacological treatment and sustained access to specialized formulas, low-protein medical food...
A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation [0.03%]
两个家系的剪接变异位点揭示了COG4基因相关糖基化障碍的新的遗传形式
Lucia Micale,Luisa Sturiale,Federica Russo et al.
Lucia Micale et al.
Autosomal recessive COG4-related congenital disorder of glycosylation [COG4-CDG(ar)] is caused by biallelic deleterious variants in COG4, which encodes a component of the conserved oligomeric Golgi complex lobe A. COG4-CDG(ar) has been desc...
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel [0.03%]
I型黏多糖贮积症变异分类；ClinGen溶酶体疾病变异解读专家小组的IDUA基因分类标准（ACMG/AMP）
Melanie Lacaria,Jennifer L Goldstein,Carlos Aschoff et al.
Melanie Lacaria et al.
With the increasing use of DNA sequencing technologies in healthcare, an accurate understanding of the clinical relevance of genetic variants is vital for the appropriate integration of these results into personalized care. To address this ...
Letter to the editor: Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiency [0.03%]
读者来信：新生儿低瓜氨酸筛查可诊断鸟氨酰转氨酶缺乏症
Maxwell Summerlin,Cary Harding,Rodrigo T Starosta et al.
Maxwell Summerlin et al.