Newborn screening for Fabry disease in Japan: an additional 3-year report [0.03%]
日本新生儿法布雷病筛查的后续三年报告
Takaaki Sawada,Jun Kido,Keishin Sugawara et al.
Takaaki Sawada et al.
Newborn screening (NBS) for Fabry disease (FD) is highly effective at detecting FD prior to symptom onset. This initiative is currently being implemented worldwide. We previously reported results for 599,711 newborns from the first large-sc...
Examining the role of social workers within clinical metabolic genetics care [0.03%]
探究社会工作者在临床代谢遗传学护理中的作用
Soo Shim,Diana Cory,Gailon Wixson et al.
Soo Shim et al.
Optimal care for individuals with inborn errors of metabolism (IEMs) requires a well-integrated multidisciplinary care team in which each member contributes specialized expertise to address the complex medical, psychosocial, and logistical ...
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria [0.03%]
变体迟发性皮肤卟啉病的同型合子病例2例误诊为原发性,protoHEME氧化酶缺陷症
Chenqing Wang,Narmene Bensaber,Lina Rebeiz et al.
Chenqing Wang et al.
Homozygous variegate porphyria (HVP) is an ultra-rare porphyria caused by biallelic pathogenic variants in PPOX. It typically presents with early childhood onset of cutaneous photosensitivity, including blistering, skin fragility, scarring,...
A 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics [0.03%]
一项关于伏格列珂酶α在戈谢病Ⅰ型中国患者中安全性和有效性的53周开放性Ⅲb期研究及药代动力学研究
Lihui Zhang,Xue-Qun Luo,Yongjun Fang et al.
Lihui Zhang et al.
Background: Velaglucerase alfa is approved in China for treating type 1 Gaucher disease (GD1), but data on its use in Chinese pediatric and adult patients are limited. This study evaluated the safety, efficacy, and pharma...
Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase [0.03%]
Pegvaliase治疗苯酮尿症患者的饮食限制放宽后的生存质量评估
Chiara Cazzorla,Giacomo Gaiga,Jessica Carretta et al.
Chiara Cazzorla et al.
Objective: To assess the impact of pegvaliase treatment on quality of life and individuals' perception of and satisfaction with therapy in Italian individuals with classical phenylketonuria (PKU) after diet liberalization...
POLG-related disorders: Clinical and molecular Spectrum in the Saudi population [0.03%]
线粒体DNA聚合酶γ缺陷病的临床和分子特征：沙特人群报告
Fuad Al Mutairi,Faisal Joueidi,Ziyad A Al Mutairi et al.
Fuad Al Mutairi et al.
Background: POLG-related disorders are a group of mitochondrial diseases caused by variants in the POLG gene, which is essential for mitochondrial DNA replication and repair. These disorders encompass a wide spectrum of c...
Body composition in adults with phenylketonuria: A 5 years follow-up study [0.03%]
苯酮尿症成人患者五年追踪身体组成变化研究
Bianca Fasolo Franceschetto,Yannick Moutapam-Ngamby-Adriaansen,Nathalie Tressel et al.
Bianca Fasolo Franceschetto et al.
This longitudinal study evaluated body composition in 24 early-treated adults with PKU using Dual-Energy X-ray Absorptiometry (DXA). At baseline, eutrophy, overweight, and obesity were found in 9, 9, and 6 patients, respectively. After 5 ye...
Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report [0.03%]
米加拉司特治疗法布雷病女性患者角膜沉积物的影响：病例报告
Nicola Vitturi,Giorgia Gugelmo,Francesca Zanini et al.
Nicola Vitturi et al.
Fabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sig...
Transient abnormal acylcarnitine profile in newborn screening mimicking multiple acyl-Coenzyme A dehydrogenase deficiency associated with maternal sertraline use [0.03%]
母亲使用舍曲林导致新生儿筛查中多种酰基辅酶A脱氢酶缺乏症的假阳性反应
Rebecca Barbetti,Kate Coleman,Louise Fraser et al.
Rebecca Barbetti et al.
Background: Multiple acyl-Coenzyme A dehydrogenase deficiency (MADD) is an inborn error of metabolism affecting fatty acid, amino acid and choline oxidation and is included in newborn screening in Australia. Recent report...
Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience [0.03%]
米加拉司特治疗法布雷病的疗效和耐受性：单一地区中心的经验报告
Eamon P McCarron,Rajkumar Chinnadurai,Karolina M Stepien et al.
Eamon P McCarron et al.
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A (α-Gal) activity, leading to progressive renal, cardiac, and cerebrovascular involvement. Migalastat, an ora...