Implementation of a dried blood spot-based Newborn screening program for adenosine deaminase deficiency: An initial experience in Japan [0.03%]
日本基于干血斑新生儿筛查腺苷脱氨酶缺乏症的初步经验
Yuya Kinoshita,Jun Kido,Takaaki Sawada et al.
Yuya Kinoshita et al.
Background: Adenosine deaminase (ADA) deficiency is a congenital error of purine metabolism and major cause of severe combined immunodeficiency (SCID). This life-threatening hereditary disorder requires early diagnosis an...
Neonatal gene therapy with AAV2/8-LSPhGAA improves hypertrophic cardiomyopathy in the Gaac.1826dupA knock-in murine model [0.03%]
新型腺相关病毒载体介导的新生儿基因治疗可改善Gaac.1826dupA敲入小鼠模型肥厚型心肌病
Shih-Hsin Kan,Jerry F Harb,Songtao Li et al.
Shih-Hsin Kan et al.
Pompe disease (PD) results from lysosomal acid α-glucosidase (GAA) deficiency, causing lysosomal glycogen accumulation in cardiac and skeletal muscles. We previously characterized a murine model carrying the orthologous human infantile-ons...
Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency [0.03%]
Beyond瓜氨酸：氨基酸比例诊断新生儿肝内胆汁淤积症- CITRIN缺乏的准确性
Shinjie Choi,Naye Choi,Hwa Young Kim et al.
Shinjie Choi et al.
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder resulting from biallelic pathogenic variants of the SLC25A13 gene. Because NICCD requires immediate and specific dietary mana...
Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patients [0.03%]
尿液非侵入性杂合度筛查优于血液检测 检测某些线粒体DNA变异型在线粒体疾病患者中的效果更好
Atsuko Okazaki,Yukiko Yatsuka,Takuya Fushimi et al.
Atsuko Okazaki et al.
Background: Mitochondrial diseases present diagnostic challenges due to variations in heteroplasmy levels of mitochondrial DNA (mtDNA) in different tissues. Current diagnostic approaches primarily rely on blood testing, w...
Complementary and alternative medicines and cannabis use among individuals with acute intermittent porphyria [0.03%]
急性间歇性血卟啉病患者的补充和替代药物及大麻使用情况
Arnhildur Tomasdottir,Karli Hedstrom,Jessica R Overbey et al.
Arnhildur Tomasdottir et al.
Acute Intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis characterized by severe acute neurovisceral attacks. Despite available therapies many individuals continue to experience chronic residual symptoms...
Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs [0.03%]
向标准化护理迈进：关于长链脂肪酸氧化障碍的妊娠管理的国际专家调查及未满足需求
Karina A Zeyer,Terry G J Derks,Mirjam Langeveld et al.
Karina A Zeyer et al.
Background: Long-chain fatty acid oxidation disorders (LcFAODs) are rare inherited disorders associated with impaired energy metabolism and increased risk of metabolic decompensation during catabolic stress. With improved...
Biomarkers and surrogate endpoints for drug development in propionic acidemia [0.03%]
丙酸血症药物研发的生物标志物和替代终点
Agnieszka Jurecka,Sabine Scholl-Bürgi,Barbara Burton et al.
Agnieszka Jurecka et al.
Drug development in rare metabolic diseases is frequently limited by the lack of validated clinical trial endpoints, particularly for chronic disease modification. Propionic acidemia (PA) is an intoxication-type inherited metabolic disorder...
Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram [0.03%]
腺苷琥珀酸裂解酶严重缺乏并早期自主神经功能障碍：一种新型ADSL突变的功能表征及使用戒酒硫进行探索性治疗
Ružica Kravljanac,Marie Zikanova,Iva Milačić et al.
Ružica Kravljanac et al.
Adenylosuccinate lyase (ADSL) deficiency (MIM# 103050) is a rare inherited disorder of purine metabolism characterized by neurodevelopmental impairment, epilepsy, and accumulation of succinylpurines. The clinical spectrum ranges from severe...
Re: "Disease or non-disease - about the identification of metabolic conditions that require no treatment" [0.03%]
关于代谢性疾病不需要治疗的辨析——对《疾病或非疾病——代谢状况识别》一文的回答
Ayoade Desmond Babalola,Lavinia Schuler-Faccini,François Maillot et al.
Ayoade Desmond Babalola et al.
Accessibility and harmonization of biochemical tests for diagnosis and monitoring of Porphyrias in the United States: Recommendations by members of the American Porphyrias Expert Collaborative (APEX) [0.03%]
美国血紫质病诊断和监测生化试验的可及性和协调性：美国血紫质病专家协作组（APEX）成员建议
Karl E Anderson,Robert J Desnick,Herbert L Bonkovsky et al.
Karl E Anderson et al.
Diagnosis and management of porphyrias require appropriate biochemical testing. Tests available to practicing physicians in the US are not consistent and depend greatly on what is offered by individual laboratories. In addition, harmonizati...