Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants [0.03%]
全外显子组测序鉴定两个沙特家系原发小头畸形罕见遗传病因：CDK5RAP2和CIT致病突变的基因组及表型界定
Daniah Albokhari,Rayya Almarwani,Emad Khadawardi et al.
Daniah Albokhari et al.
Primary microcephaly-3 (MCPH3) and primary microcephaly-17 (MCPH17) are rare autosomal recessive disorders caused by biallelic variants in CDK5RAP2 and CIT, respectively. MCPH3 is characterized by microcephaly, neurodevelopmental delays, ab...
Improvement in quality of life and general functions in pediatric acid sphingomyelinase deficiency patients after receiving olipudase alfa: A single-center experience in Taiwan [0.03%]
台湾儿童酸性鞘磷脂酶缺乏症患者接受olipudase alfa治疗后的生命质量和整体功能改善：单一中心的经验
Yu-Wen Pan,Wen-Hao Yu,Meng-Che Tsai et al.
Yu-Wen Pan et al.
Background: The ultra-rare lysosomal storage disease, Acid sphingomyelinase deficiency (ASMD), is currently managed with olipudase alfa, an enzyme replacement therapy (ERT). Specifically targeting the non-neurological man...
Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study [0.03%]
新生儿筛查中多硫酶缺乏症(MSD)的鉴定：案例研究
Taraka R Donti,James C DiPerna,Madhuri R Hegde;Revvity Omics et al.
Taraka R Donti et al.
A patient with multiple sulfatase deficiency (MSD) was identified through a lysosomal storage disorder enzyme analysis panel, based on a characteristic pattern of reduced activities across multiple sulfatases. Newborn screening laboratories...
First reported case of adult-onset very long-chain acyl-coa dehydrogenase (vlcad) deficiency in Vietnam: a rare metabolic myopathy [0.03%]
越南首例成人起病的极长链酰基辅酶a脱氢酶缺乏症(VLCAD)病例：一种罕见的代谢性肌病
Vinh Phuc Kieu,Thang Van Viet Nguyen,Anh Duc Vu
Vinh Phuc Kieu
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic metabolic disorder involving impaired fatty acid β-oxidation. It is caused by mutations in the Acyl-CoA Dehydrogenase Very Long Chain (ACADVL) gene, which encodes ...
Carolina Araújo Moreno,Ruy Pires de Oliveira Sobrinho,Josep Jorente et al.
Carolina Araújo Moreno et al.
Objective: Alkaptonuria is a rare inborn error of metabolism, with few reports from Brazil and typically lacking genotype descriptions in the Brazilian population. ...
M Vela-Amieva,M A Alcántara-Ortigoza,S Guillén-López et al.
M Vela-Amieva et al.
Propionic acidemia (PA) is conditioned by a deficiency of propionyl-CoA carboxylase, whose subunits are coded by the PCCA and PCCB genes. In the Mexican population, little is known about the clinical presentation of PA and the underlying ge...
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns [0.03%]
pegvaliase在苯酮尿症中的临床应用经验：结果、安全性和给药模式的回顾性图表审查
Jariya Upadia,Grace Noh,Kea Crivelly et al.
Jariya Upadia et al.
Background: Phenylketonuria (PKU) is a metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency, resulting in elevated plasma phenylalanine (Phe) levels. Pegvaliase (Palynziq®), pegylated phenylalanine amm...
Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion [0.03%]
在患有自闭症谱系障碍和注意缺陷多动障碍以及以前未报道的结构性脑畸形的患者中鉴定出的新HCFC1变异体揭示了表型扩展的潜力
Victoria L Castro,Carlos E Palomino,Jessica O&#x;Shea et al.
Victoria L Castro et al.
Pathogenic variants in the HCFC1 gene, which encodes a transcriptional cofactor, cause cblX syndrome, intellectual disability, or partial focal epilepsy. HCFC1 encodes a multi-domain precursor protein that undergoes proteolytic cleavage to ...
Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis [0.03%]
I型黏多糖贮积症H患者的成人期疾病负担：全面文献回顾与病例分析
Emma N Lusk,Katherine A Percival,Caylee A Weber et al.
Emma N Lusk et al.
Introduction: Mucopolysaccharidosis type I H (MPS IH; Hurler syndrome) is a rare autosomal recessive disease that causes deficiency of alpha-L-iduronidase - an enzyme responsible for catabolizing glycosaminoglycans (GAGs)...
Biochemical characterization of the FH variant p.Lys414Glu reveals loss of enzymatic function and disrupted multimerization [0.03%]
FH变异p.Lys414Glu的生化表征显示其酶活性丧失并导致寡聚化异常
Connor J Huck,Isabella Devaprasad,Blake R Wilde
Connor J Huck
Variants of uncertain significance (VUS) in fumarate hydratase (FH) complicate the diagnosis of hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH VUS p.Lys414Glu has been reported in patients with HLRCC features but additio...