Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation [0.03%]
天冬氨酰糖氨是NGLY1-CDDG（脱糖基化障碍）的生物标志物
Hanneke A Haijes,Monique G M de Sain-van der Velden,Hubertus C M T Prinsen et al.
Hanneke A Haijes et al.
Background: NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome seq...
Karl E Anderson
Karl E Anderson
Each of the four acute hepatic porphyrias is due to mutation of an enzyme in the heme biosynthetic pathway. The accumulation of pathway intermediates that occur most notably when these diseases are active is the basis for screening and esta...
Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial [0.03%]
晚发型庞贝病患者呼吸肌训练疗效的假动作对照临床试验方案
Harrison N Jones,Maragatha Kuchibhatla,Kelly D Crisp et al.
Harrison N Jones et al.
Introduction:: Morbidity and mortality in adults with late-onset Pompe disease (LOPD) results primarily from persistent progressive respiratory muscle weakness despite treatment with enzyme replacement therapy (ERT). To a...
Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress [0.03%]
儿童空腹状态下血浆酰基肉碱变化的解析以更好地诠释代谢压力
Willemijn J van Rijt,Rixt M van der Ende,Catharina M L Volker-Touw et al.
Willemijn J van Rijt et al.
Background: Childhood fasting intolerance is a life-threatening problem associated with various inborn errors of metabolism. Plasma acylcarnitines reflect fatty acid oxidation and help determine fasting intolerance etiolo...
Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2 [0.03%]
一种新的五参数评估量表：用于评估戈谢病Ⅱ型患者神经功能损害的预后量表
Gurpreet Seehra,Beth Solomon,Emory Ryan et al.
Gurpreet Seehra et al.
Background: Gaucher disease type 2 (GD2) is defined by acute neurological decline, failure to thrive, and early demise. Currently, there is no clear standard for evaluating, staging, and counseling regarding neurological ...
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2 [0.03%]
CITRT治疗NICCD及适应/代偿期阶段的当前策略：预防CTLN2
Yoshiyuki Okano,Toshihiro Ohura,Osamu Sakamoto et al.
Yoshiyuki Okano et al.
Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. Citrin deficiency is characterized by 1) neonatal intrahepatic cholestas...
Natacha Sloboda,Arnaud Wiedemann,Marc Merten et al.
Natacha Sloboda et al.
Aim: To study the efficacy of low dosage of nitisinone in alkaptonuria. Background: Alkaptonuria (AKU) is a rare genetic disease which ...
Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis [0.03%]
基于串联质谱的α-岩藻糖苷酶病和α-半乳糖苷酶病的多重检测方法
Arun Babu Kumar,Xinying Hong,Fan Yi et al.
Arun Babu Kumar et al.
Multiplex tandem mass spectrometry (MS/MS)-based enzyme activity assays for newborn screening (NBS) and diagnosis of lysosomal storage diseases (LSDs) in newborns, using dried blood spots (DBS) on newborn screening cards, have garnered much...
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency [0.03%]
LIPA基因新型同义变异影响剪切并导致溶酶体酸性脂肪酶缺乏症
I O Bychkov,E A Kamenets,A Yu Filatova et al.
I O Bychkov et al.
Lysosomal acid lipase deficiency (LALD; MIM#278000) is a continuum of autosomal recessive diseases caused by defects in the gene LIPA and historically divided into two phenotypes: severe infantile-onset form called Wolman disease (WD) and c...