Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases [0.03%]
深度内含子和RNA测序在遗传未解的庞贝氏病病例中的分子诊断综合应用增强分子诊断
Huseyin Onay,Deniz Kor,Fatma Derya Bulut et al.
Huseyin Onay et al.
We describe a diagnostic workflow integrating deep intronic and RNA sequencing to resolve genetically unsolved Pompe cases. A five-year-old girl with hypertrophic cardiomyopathy, muscle weakness, recurrent respiratory tract infections, elev...
Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis [0.03%]
规律进行物理治疗干预对黏多糖贮积症患儿功能和生活质量的影响研究
Jian Dealy,Michal Inbar-Feigenberg
Jian Dealy
Objectives: We aimed to determine the impact of regular physiotherapy (PT) intervention, tailored to the individual needs and physical limitations of children with Mucopolysaccharidosis (MPS), on their function and qualit...
Autosomal recessive ELOVL1-related disorder presenting with severe neonatal cholestasis: A novel clinical feature? [0.03%]
一种新的临床特征？ELOVL1自体显性相关紊乱导致重度新生儿胆汁淤积症
Anne Chun-Hui Tsai,Hsuan-Tung Lee,Bianca Sanchez et al.
Anne Chun-Hui Tsai et al.
ELOVL1-related disorders are typically characterized by neurological and dermatological features. We present a novel case of severe neonatal cholestasis in a female neonate with autosomal recessive inheritance with a homozygous variant in E...
Modulation of glutamate metabolism in Niemann-pick disease type C1 mice [0.03%]
Niemann-Pick疾病C1型小鼠谷氨酸代谢的调控
Antony Cougnoux,Carolina S Alvarez,Andrea Gutierrez Maria et al.
Antony Cougnoux et al.
Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease that results in progressive loss of Purkinje neurons. Previous work has implicated dysregulation of glutamate signaling as a potential pathogenic mechanism. In this study, we explo...
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype [0.03%]
两例未经治疗的苯酮尿症成人姐妹临床表型差异明显
Didem Demirbas,Susan E Waisbren,Olaf Bodamer et al.
Didem Demirbas et al.
Intellectual disability is the cardinal clinical feature of untreated phenylketonuria (PKU). Nevertheless, there are rare individuals with untreated PKU who have had normal or near normal cognition despite having never been treated. We are ...
Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects [0.03%]
长效米加司他治疗后测量α-半乳糖苷酶A活性的关键考虑因素——避免体外抑制效应
Miyo Munakata,Takeo Iwamoto,Wu Chen et al.
Miyo Munakata et al.
Assessment of α-galactosidase A (α-GAL) activity is a reliable method for evaluating the pharmacological efficacy of migalastat (Galafold) in Fabry disease patients undergoing chaperone therapy. Although some of mutant α-GAL retain norma...
Galactose tolerance in adults with classical galactosaemia. Considering the gaps [0.03%]
经典半乳糖血症成人患者半乳糖耐量考虑存在的缺口问题
L A Shakerdi,C Newman Thacker,K Moore et al.
L A Shakerdi et al.
Classical galactosaemia (CG, OMIM 230400) is a rare inborn error of metabolism caused by deficiency of galactose-1-phosphate uridylyltransferase. The available modality of treatment, a galactose-restricted diet, is effective in preventing l...
Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation [0.03%]
一种线粒体移植可以恢复的与进行性虚弱、疼痛和睡眠问题有关的UQCRC1变异型的特征描述
Gerardo G Piroli,Rebecca Myers,Lynda Holloway et al.
Gerardo G Piroli et al.
Primary mitochondrial defects underlie the heterogeneity of many rare inherited disorders. Pathogenic variants that disrupt the function of the multi-subunit protein complexes of the mitochondrial respiratory chain contribute to a range of ...
Incidental maternal glutaric aciduria type I detection through newborn screening: A case report [0.03%]
新生儿筛查中偶见的Ⅰ型戊二酸尿症母亲1例报告
Pierre-Edouard Grillet,Cecilia Marelli,Etienne Mondésert et al.
Pierre-Edouard Grillet et al.
The expansion of newborn screening in France (2023-2025) to include carnitine metabolism disorders has increased false positives, often due to unsuspected maternal metabolic conditions. We report the first french incidental diagnosis of a g...
First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity [0.03%]
Moroccan脊髓性肌萎缩症患者SMN1、SMN2和NAIP拷贝数的首次联合分析及其与疾病严重程度的相关性
Samira Nmer,Said Trhanint,Hanane Sayel et al.
Samira Nmer et al.
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder caused in 95% of cases by homozygous SMN1 exon 7 deletion, with severity primarily determined by the modifier genes SMN2 and NAIP copy numbers. ...