The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy [0.03%]
ABCD1基因变异风险分类的灰区项目:X连锁肾上腺脑白质营养不良
Troy C Lund,Kelly Miettunen,Yorrick R J Jaspers et al.
Troy C Lund et al.
Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance...
Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria [0.03%]
口服四氢生物喋呤治疗苯酮尿症后血中生物喋呤的年龄依赖性变化
Kana Kitayama,Tomoko Sakaguchi,Noriko Nakano et al.
Kana Kitayama et al.
The correct diagnosis of tetrahydrobiopterin (BH4, sapropterin dihydrochloride)-responsive phenylketonuria (PKU) and treatment with BH4 are important for prognosis and quality of life. We examined whether age affects biopterin bioavailabili...
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials [0.03%]
arginase 1缺乏的临床特征：来自国际临床试验的自然病史见解
Mattias Rudebeck,Nancy Braverman,Richard Chang et al.
Mattias Rudebeck et al.
Arginase 1 deficiency (ARG1-D) is an ultra-rare inherited metabolic disorder of the urea cycle, caused by partial or complete loss of arginase 1 function, characterised by hyperargininaemia and a distinct, progressive neurological phenotype...
A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women [0.03%]
揭开安德森-法布雷病女性患者诊断缺口的meta分析研究
L Lenzini,G Pintus,G Gugelmo et al.
L Lenzini et al.
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity. Although historically considered a male disease, it is now recognized that heteroz...
Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency [0.03%]
通过辅酶NADHX修复缺陷斑马鱼模型揭示早期发育中免疫系统的紊乱现象
Myrto Patraskaki,Najmesadat Seyedkatouli,Lisa Schlicker et al.
Myrto Patraskaki et al.
The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox-inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) a...
Reddy Sreekanth Vootukuri,Sonam Gurung,Roopkatha Ghosh et al.
Reddy Sreekanth Vootukuri et al.
Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences...
Global Access to IMD Drugs: Bridging the Gap Between High-Income Countries and Latin America [0.03%]
IMD药物的全球获取：高收入国家与拉丁美洲之间的差距分析
Juan Francisco Cabello,Rodrigo Salinas
Juan Francisco Cabello
People living with inborn errors of metabolism (inherited metabolic diseases, IMDs) rely on lifesaving orphan drugs-therapies often developed and available primarily in high-income countries. Yet in many low- and middle-income regions, espe...
A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency [0.03%]
高甘氨酸、叶酸一碳基团供体缺乏和丝氨酸缺乏的小鼠模型显示了广泛的生化异常现象
Michael A Swanson,Hua Jiang,Lakshmi Divya Kolora et al.
Michael A Swanson et al.
Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a ma...
Carlos Robson Costa Cruz,Edina Poletto,Larissa Mota Silva et al.
Carlos Robson Costa Cruz et al.
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease caused by mutations in the IDUA gene, resulting in decreased activity of the lysosomal enzyme α-l-iduronidase (IDUA) and consequent accumulation of glycosaminoglycans i...
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency [0.03%]
针对TK2缺陷的线粒体肌病结局指标的研究；一项纵向研究的见解
Paloma Martín-Jimenez,Laura Bermejo-Guerrero,Luz Edith Ochoa et al.
Paloma Martín-Jimenez et al.
Thymidine kinase 2 deficiency (TK2d) is an ultra-rare autosomal recessive mitochondrial myopathy with variable presentations, including late-onset forms beginning after age 12. Unlike early-onset disease, the natural history of late-onset T...