Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome [0.03%]
伊朗乔贝特综合征病例系列的分子和临床异质性分析
Sheyda Khalilian,Mohadeseh Fathi,Zahra Farbood et al.
Sheyda Khalilian et al.
Background: Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy characterized by a distinctive midbrain-hindbrain malformation, manifested by hypotonia, ataxia, developmental delay, and variable multisystem invo...
Plasma KL-6 reflects pulmonary severity and longitudinal response to enzyme replacement therapy in acid sphingomyelinase deficiency type B [0.03%]
血浆KL-6反映酸性鞘磷脂酶缺乏症B型的肺部严重程度和长期酶替代治疗反应
Karla Cifuentes-Uribe,Nathalie Guffon,Lucie Boulière et al.
Karla Cifuentes-Uribe et al.
Acid sphingomyelinase deficiency (ASMD) type B is frequently complicated by interstitial lung disease without validated circulating pulmonary biomarkers. In this retrospective longitudinal study of five patients treated with enzyme replacem...
Mucopolysaccharidosis type IIIA and IIIC phenotypic progression: A case series [0.03%]
mucopolysaccharidosis ⅢA 和 ⅢC 型的临床表现进展：一系列病例报告
Paola Naal-Chan,Ermilo Echeverria-Ortegon,Jary-Davis Couoh-Castañeda et al.
Paola Naal-Chan et al.
Background: Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a group of rare autosomal recessive lysosomal storage disorders caused by deficiency of enzymes involved in heparan sulfate degradation, enc...
A Chinese infant with CACNA1C p.C1021R variant expands clinical phenotype of CACNA1C-related disorder [0.03%]
CACNA1C基因p.C1021R变异所致罕见遗传性肌病的病例报告
Congshan Jiang,Yafei Zhou,Siyu Zhang et al.
Congshan Jiang et al.
CACNA1C-related disorder (CRD), a severe multisystem disorder caused by variants of CACNA1C gene, presents significant diagnostic and management challenges due to its rarity and variable expressivity. This study leverages a detailed longitu...
Proteomic alterations in patient bone-derived stromal cells and their secretomes in osteogenesis imperfecta [0.03%]
成骨不全患者骨源间充质干细胞及其细胞因子风暴的蛋白质组学改变
Kishore Garapati,Dong-Gi Mun,Rex Devasahayam Arokia Balaya et al.
Kishore Garapati et al.
Type I collagen is the most abundant form of collagen and forms the organic component of bone. Pathogenic variants in genes encoding its constituent polypeptide chains, COL1A1 and COL1A2, can result in autosomal dominant osteogenesis imperf...
A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient [0.03%]
酸性鞘磷脂酶缺乏症（ASMD）的疑难病例：无脾患者的严重间质性肺疾病
Arlindo Guimas,Esmeralda Martins
Arlindo Guimas
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with multisystemic involvement. We report a 68-year-old asplenic man with late-onset ASMD and severe interstitial lung disease, chronic respiratory failure, and ma...
Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders [0.03%]
伊朗先天性和早发性眼病患者的外显子组测序诊断价值和变异谱分析
Ali Asadi,Seyed Ataollah Sadat Shandiz,Amirhossein Ebrahimi et al.
Ali Asadi et al.
Background: Inherited ocular disorders are a leading cause of early-onset visual impairment, particularly in populations with high consanguinity such as Iran, where a substantial proportion of affected individuals remain ...
Genotype-phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital [0.03%]
越南国家儿童医院关于I型糖原贮积症的表型与基因型以及临床预后的15年经验总结
Hang Thi Nguyen,Dung Chi Vu,Tung Viet Cao et al.
Hang Thi Nguyen et al.
Background: Glycogen Storage Disease Type I (GSD I) is an inherited metabolic disorder characterized by impaired hepatic glucose production due to defects in gluconeogenesis and glycogenolysis. Two subtypes are recognized...
Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study [0.03%]
基于GTEx的先天性糖基化障碍基因的组织特异性表达及调控的计算研究
Cátia J Neves,António Gomes,Rita A Lourenço et al.
Cátia J Neves et al.
Congenital disorders of glycosylation (CDGs) are rare metabolic diseases characterized by clinical heterogeneity, yet the molecular basis for their tissue-specific manifestations remains poorly understood. Because affected tissues are rarel...
Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases [0.03%]
双等位基因羟甲基胆色素合成酶严重缺乏症男孩肝移植的有限效果及既往报道病例综述
Manuela Araque,Christopher D Ma,Amanda Jordan et al.
Manuela Araque et al.
Introduction: A male infant presented at three months of age with generalized ataxia, hypotonia, aspiration of liquids and recurrent generalized seizures. He was treated with levetiracetam and phenobarbital. Methods: Exte...