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Molecular Genetics and Metabolism Reports

IF1.9
论文数63
被引数1627
期刊论文 63
发表时间
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Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-20232013-2023年智利中北部地区法布里病的患病率及社会人口学、临床和遗传特征
deleteMolecular Genetics and Metabolism Reports
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deleteMartinez, Sergio Royo; Castillo-Montes, Mauricio; Molt, Fernando; Rivera, Basthian Cortes; Ramirez-Santana, Muriel
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Propionic acidemia in Mexico: Clinical and genotypic spectrum墨西哥的丙酸血症：临床表现和基因型谱
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deleteVela-Amieva, M.; Alcantara-Ortigoza, M. A.; Guillen-Lopez, S.; Lopez-Mejia, L.; Gonzalez-del Angel, A.; Reyna-Fabian, M.; Fernandez-Hernandez, L.; Lopez-Velazquez, Gabriel; Mancera-Hernandez, D.; Enriquez-Flores, S.; Ibarra-Gonzalez, I.; Fernandez-Lainez, C.
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DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfallDGUOK相关线粒体DNA耗竭综合征表现为新生儿胆汁淤积而无明显高乳酸血症：一个诊断陷阱
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deleteLi, Moe; Sasai, Hideo; Taniguchi, Hiroaki; Ishida, Atsushi; Kuwabara, Yuya; Matsumoto, Hideki; Terazawa, Daisuke; Kanayama, Tomohiro; Miyazaki, Tatsuhiko; Hara, Akira; Murayama, Kei
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Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patternsPegvaliase在苯丙酮尿症中的临床应用经验：一项关于疗效、安全性和给药模式的回顾性病历分析
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deleteUpadia, Jariya; Noh, Grace; Crivelly, Kea; Cunningham, Amy; Aziz, Elise; Andersson, Hans C.
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Somatic mosaicism in the S-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis体细胞嵌合现象存在于S-氨基乙酰丙酸脱水酶基因中，导致具有红细胞生成驱动病理机制的迟发性卟啉症
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deleteVizerov, Timofei; Demina, Nina; Ponomarev, Rodion; Lukina, Elena; Pshenichnikova, Olesya; Selivanova, Daria; Tabakov, Vyacheslav; Ryzhkova, Oxana
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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通过全外显子组测序在两个沙特家族中识别出的原发性小头症的罕见遗传病因：致病性CDK5RAP2和CIT变异的基因组及表型界定
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deleteAlbokhari, Daniah; Almarwani, Rayya; Khadawardi, Emad; Saleemi, Muhamed; Abdulaziz, Najlaa; Matar, Kamal; Zubier, Mustafa
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Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experiencemigalastat在成人法布里病中的有效性和耐受性：一家区域性中心的经验
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deleteMcCarron, Eamon P.; Chinnadurai, Rajkumar; Stepien, Karolina M.; Bassett, John; Meyer, Jonathan; Sharma, Reena; Woolfson, Peter; Jovanovic, Ana
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Development of a quality control panel based on patient-derived immortalized B-Lymphoblastoid cell lines for thalassemia genotyping基于患者来源的永生化B淋巴母细胞系的质量控制面板的开发，用于地中海贫血基因分型
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deleteZhang, Huiling; Han, Liqiao; Feng, Yingyi; Yang, Longqiang; Qiu, Yuxiang; Zhang, Cheng; Li, Tingting; Ke, Peifeng; Kong, Qi; Liu, Yuanyuan; Yao, Chenyang; Huang, Xianzhang; Wang, Yi
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POLG-related disorders: Clinical and molecular Spectrum in the Saudi populationPOLG相关疾病：沙特人群的临床与分子谱
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deleteAl Mutairi, Fuad; Joueidi, Faisal; Al Mutairi, Ziyad A.; Alshalan, Maha; Eyaid, Wafaa; Mushiba, Aziza M.; AlGhamdi, Malak; Tabarki, Brahim; AlGhamdi, Abdulaziz; AlTassan, Ruqaiah; Alzaidan, Hamad; Sharif, Abubakar; Aldhalaan, Hesham; Umair, Muhammad; Alfadhel, Majid
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Body composition in adults with phenylketonuria: A 5 years follow-up study苯丙酮尿症成年患者身体成分：一项5年随访研究
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deleteFranceschetto, Bianca Fasolo; Moutapam-Ngamby-Adriaansen, Yannick; Tressel, Nathalie; de Luca, Arnaud; Schiff, Manuel; Poloni, Soraia; Schwartz, Ida Vanessa D.; Maillot, Francois
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Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis黏多糖贮积症I型H（Hurler综合征）患者的成人疾病负担：一项结合患者病例分析的综合性文献综述
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deleteLusk, Emma N.; Percival, Katherine A.; Weber, Caylee A.; Prohofsky, Ryan; Minett, Maggie M.; Snow, Ethan L.
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Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype两名未经治疗的苯丙酮尿症成年姐妹：临床表型显著不一致
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deleteDemirbas, Didem; Waisbren, Susan E.; Bodamer, Olaf; Hung, Christina Y.; Rajabi, Farrah; Berry, Gerard; Levy, Harvey L.
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Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation一位表现为进行性无力、疼痛和睡眠问题的患者中UQCRC1变异的表征揭示了可通过线粒体移植恢复的功能性线粒体缺陷
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deletePiroli, Gerardo G.; Myers, Rebecca; Holloway, Lynda; Hayek, Andrew; Linebaugh, Ellen; Jones, Julie R.; Skinner, Cindy; Skinner, Steven A.; Frizzell, Norma; Steet, Richard
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Incidental maternal glutaric aciduria type I detection through newborn screening: A case report通过新生儿筛查偶然发现母体戊二酸尿症I型：病例报告
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deleteGrillet, Pierre-Edouard; Marelli, Cecilia; Mondesert, Etienne; Francois-Heude, Marie-Celine; Roubertie, Agathe; Sabourdy, Frederique; Cristol, Jean-Paul; Acquaviva, Cecile; Badiou, Stephanie
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Galactose tolerance in adults with classical galactosaemia. Considering the gaps成人经典半乳糖血症中的半乳糖耐受性：考虑其中的差距
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deleteShakerdi, L. A.; Thacker, C. Newman; Moore, K.; Sheerin, A.; Noga, M.; Rubio-Gozalbo, M. E.; Berry, G. T.; O'Byrne, J. J.; Saldova, R.; Treacy, E. P.
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Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup奥利普酶α治疗埃及儿科酸性鞘磷脂酶缺乏症：一项具有干预性亚组的前瞻性观察队列研究
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deleteArafa, Nehal Abdelaziz; Mahfouz, Aml; Anwar, Shimaa; Marzouk, Iman
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First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity摩洛哥SMA患者中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
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deleteNmer, Samira; Trhanint, Said; Sayel, Hanane; Chaouki, Sana; Bouguenouch, Laila; Ouldim, Karim
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Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis定期物理治疗干预对诊断为黏多糖贮积症儿科患者功能和生活质量的影响
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deleteDealy, Jian; Inbar-Feigenberg, Michal
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Modulation of glutamate metabolism in Niemann-pick disease type C1 miceNiemann-Pick病C1型小鼠中谷氨酸代谢的调控
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deleteCougnoux, Antony; Alvarez, Carolina S.; Maria, Andrea Gutierrez; Hernandez, Emelin; Cawley, Niamh X.; Davidson, Cristin D.; Porter, Forbes D.
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A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis一种新型纯合CA5A基因缺失导致碳酸酐酶VA缺乏症，表现为发育迟缓而无代谢危象
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deleteHadyan, Maryam F. Bin; Saleh, Mohammed A.; Aldalaqan, Saad; Mushiba, Aziza M.; Alasmari, Ali M.; Faqeih, Eissa A.; Peer-Zada, Abdul A.
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