Real-world experience of switching to taliglucerase among patients with Gaucher disease in Québec: A case series [0.03%]
加拿大魁北克戈谢病患者转换成taliglucerase治疗的真实世界经验：病例系列研究
Angelo Rizzolo,Marie-Claude Miron,Jean-François Delisle et al.
Angelo Rizzolo et al.
Enzyme replacement therapy (ERT) for Gaucher disease (GD) effectively prevents skeletal, visceral, and hematologic complications of this inherited, lysosomal storage disorder. Taliglucerase is one of the three commercially available ERT pro...
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism [0.03%]
脯氨酰肽酶缺乏症罕见的胶原代谢障碍临床及生化特点分析
Troy K Coody,Irene De Biase,Julie M Porter et al.
Troy K Coody et al.
Prolidase deficiency (PD) is an autosomal recessive inborn error of metabolism, with an estimated incidence of 1 per 1.25 million births. Prolidase is critical for the turnover of proline and hydroxyproline-rich proteins, such as collagen. ...
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening [0.03%]
Gaucher病的早期诊断和管理：一个病例系列，强调新生儿筛查的关键作用
Éliane Beauregard-Lacroix,Madeline Steffensen,Caitlin Menello et al.
Éliane Beauregard-Lacroix et al.
Type 1 Gaucher disease is a lysosomal storage disorder associated with marked phenotypic heterogeneity, including among individuals carrying genotypes historically defined as "mild". Early diagnosis, workup and follow-up care are crucial to...
Serum hepcidin as a biomarker of treatment response in Gaucher disease [0.03%]
葛耶尔病治疗反应的生物标记物 serum hepcidin检测
Tiago Koppe,Franciele C Pinheiro,Marina Siebert et al.
Tiago Koppe et al.
Gaucher disease (GD) is a lysosomal disorder associated with hyperferritinemia and altered hepcidin levels. This study evaluated the effect of GD-specific treatment on serum hepcidin and interleukin-6 (IL-6) in seven treatment-naïve Brazil...
Improving sapropterin administration efficacy in PKU: Clinical practice case studies [0.03%]
PKU临床实践病例研究：提高sapropterin的给药疗效
Martina Tosi,Anne Daly,Catherine Ashmore et al.
Martina Tosi et al.
In patients with phenylketonuria (PKU), sapropterin dihydrochloride (sapropterin) lowers blood phenylalanine (Phe) and may enhance Phe tolerance in sapropterin responsive patients. Attention to its administration, particularly the timing, a...
Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause [0.03%]
致命的新生儿酸中毒：多组学调查一种新的HIBCH变异作为潜在原因
Sonali Patel,Muhammad Zain-Ul-Abideen,Genevieve Guyol et al.
Sonali Patel et al.
HIBCH (3-Hydroxyisobutyryl-CoA hydrolase) deficiency is a rare, autosomal recessive inborn error of metabolism caused by pathogenic variants in HIBCH and typically presenting in the first year of life with hypotonia, seizures, global develo...
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female [0.03%]
NDUFV1复合杂合性变异致六岁健康女孩突发严重乳酸性碱中毒
Stephen G Kaler,William Fyke,Angela Lignelli-Dipple et al.
Stephen G Kaler et al.
NDUFV1 encodes NADH: ubiquinone oxidoreductase core subunit V1, a key component of mitochondrial Complex 1. Biallelic pathogenic variants in this gene produce a broad and variable phenotypic spectrum in affected individuals, including ophth...
Development of an automated quality control and assay performance management system for biochemical genetics laboratory [0.03%]
生化遗传实验室自动质量控制和测定性能管理系统的发展
P Tanpaiboon,D Salazar,M Pan et al.
P Tanpaiboon et al.
Objectives: Quality control (QC) in clinical laboratory is critical to ensuring quality and accuracy of patient results. However, QC monitoring is complicated in the multi-analyte, multi-instrument assays common to bioche...
Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review [0.03%]
手部僵硬不仅是一种风湿病症状：III 型粘脂贮积病一例并文献复习
Alessandro La Rosa,Alessia Pepe,Barbara Tappino et al.
Alessandro La Rosa et al.
Background: Mucolipidosis (ML) is a rare autosomal recessive lysosomal disorder with variable onset and severity: MLII, characterized by early onset and rapid progression, and MLIII, milder with late onset and prolonged s...
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report [0.03%]
一种新生儿筛查未检测到的由维生素B1治疗有效的枫糖尿病病例报告
Jariya Upadia,Grace Noh,Kea Crivelly et al.
Jariya Upadia et al.
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex. It is classified into four subtypes: classic, intermediate, intermitte...