Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications [0.03%]
脱糖化障碍疾病2型。关于新的MAN2C1致病性变异和更多表型影响的报道
Rafael Luis Aguirre-Guillen,Luis Ángel Arredondo-Navarro,María Fernanda Hernández-Rodríguez et al.
Rafael Luis Aguirre-Guillen et al.
The MAN2C1 gene encodes an enzyme with alpha-mannosidase 2C1 activity, which is responsible for the degradation of defective glycoproteins in the cytoplasm. The purpose of this report is to present a novel MAN2C1 pathogenic variant in a pat...
Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review [0.03%]
支链氨基酸转氨酶2（BCAT2）缺乏症的病例系列和系统性回顾
Maja Filipic,Ziga Iztok Remec,Ana Drole Torkar et al.
Maja Filipic et al.
Background: Branched-chain amino acid transaminase 2 (BCAT2) deficiency is an autosomal recessive disorder that impairs branched-chain amino acid (BCAA) catabolism. Its clinical and metabolic features remain poorly unders...
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant [0.03%]
伊拉克儿童岩藻糖苷贮积病的临床和基因特点及新型MAN2B1变异型病例系列研究
Mays Riyadh Al Tai,Nebal Waill Saadi,Marwa Sabah Alothman et al.
Mays Riyadh Al Tai et al.
Background: Alpha-mannosidosis is a rare lysosomal storage disorder caused by MAN2B1 mutations, leading to cognitive decline, hearing loss, infections, and skeletal abnormalities. Limited data exist from the Middle East; ...
Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report [0.03%]
酶检及分子基因检测在婴儿期庞贝病早期诊断中的应用价值——一例报道
Anuradha Sharma,Minakshi Vashist,Rohit Kaushik et al.
Anuradha Sharma et al.
Background: Infantile-onset Pompe disease is a severe lysosomal storage disorder caused by biallelic pathogenic variants in GAA , leading to deficient acid α-glucosidase activity. ...
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review [0.03%]
婴儿唾液酸贮积病伴低再生性贫血的新型SLC17A5变异：神经影像学见解及文献回顾
Francesca Cappozzo,Mariasavina Severino,Elena Gennaro et al.
Francesca Cappozzo et al.
Infantile sialic acid storage disorder (ISSD) represents the most severe form of free sialic acid storage disease (FSASD), a rare lysosomal storage disorder caused by mutations in SLC17A5, which encodes the lysosomal sialic acid transporter...
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy [0.03%]
早期强化血液透析治疗维生素B₁₂缺乏型甲基丙二酸血症相关视神经病变1例报告及文献复习
Alicia Guertin,Raoul Kanav Khanna,Marine Tardieu et al.
Alicia Guertin et al.
Background: Methylmalonic acidemia (MMA) caused by complete or partial deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (mut0 or mut- enzymatic subtype, respectively) leads to the accumulation of toxic orga...
Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants [0.03%]
伊拉克儿童黏多糖贮积症IVA临床和分子谱系的特征：特有的基因型-表型趋势及GALNS新变异
Saja Baheer Abdul Wahhab,Rabab Farhan Thejeal
Saja Baheer Abdul Wahhab
Background: Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare lysosomal storage disorder that causes early-onset skeletal dysplasia and progressive multisystem involvement. Although international coho...
Fadoua Bouzid,Houda El Fissi,Khadija Karim et al.
Fadoua Bouzid et al.
The mucopolysaccharidoses are a heterogeneous group of lysosomal storage disorders caused by deficiencies of enzymes involved in degradation of glycosaminoglycans. This study aimed to share our experience with biochemical investigations of ...
Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective [0.03%]
Gaucher病亚型的转录组特征：系统生物学视角
Mohammad Elahimanesh,Reza Ganjali,Mohammad Najafi
Mohammad Elahimanesh
Gaucher disease (GD) is a lysosomal storage disorder caused by the failure of GBA1 (Glucosylceramidase Beta 1). The aim of study was to analyze and enrich signaling pathways with transcriptomic profiles in cultured skin fibroblasts of GD su...
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing [0.03%]
3-甲基巴抗酸尿症(HMG-CoA裂解酶缺乏)的及时干预：新生儿筛查、代谢管理和基因组测序的作用
Iskren Menkovic,Neelam Makhijani,Ludmila Francescatto et al.
Iskren Menkovic et al.
3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is a rare autosomal recessive metabolic disease caused by variants in the HMGCL gene leading to an impairment in leucine catabolism and ketone synthesis. In the United States, HMG-Co...