Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document [0.03%]
英国成人典型半乳糖血症饮食管理护理共识文件
Louise Robertson,Simon Tapley,Alexa Sparks et al.
Louise Robertson et al.
Classical Galactosaemia is a rare, inherited metabolic disorder requiring lifelong dietary management. Despite increasing numbers of adults living with this condition, there is currently no formalised training or standardised guidance for U...
Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review [0.03%]
中国型黑色尿酸症患者的临床及分子特征研究：一例儿科患者的4年随访及文献复习
Xiaomei Qiu,Yuqing Liu,Yongxian Shao et al.
Xiaomei Qiu et al.
Alkaptonuria (AKU) is a rare autosomal recessive disorder of amino acid metabolism caused by defects in the HGD gene. The diagnosis of AKU is often delayed or missed due to its insidiousness. AKU is far from well-known in China. This study ...
Dennis T Famili,Gehad Elghazali,Emanuela Argili et al.
Dennis T Famili et al.
Vici syndrome is a severe neurodevelopmental multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. There may be additional variable involvement of other organs. V...
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder [0.03%]
鼠和人类细胞模型中溶酶体游离唾液酸贮积障碍的糖脂变化特征分析
Marya S Sabir,Kostantin Dobrenis,Allisandra K Rha et al.
Marya S Sabir et al.
Free sialic acid storage disorder (FSASD) is an autosomal recessive lysosomal storage disease caused by biallelic pathogenic variants in SLC17A5, which encodes the lysosomal sialic acid transporter, sialin. FSASD is characterized by excessi...
Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy [0.03%]
限制含硫饮食对乙基malonic脑病生化及临床反应的影响
Steven H Lang,Andres Caceres Salgado,Matthew T Snyder et al.
Steven H Lang et al.
Introduction: Ethylmalonic encephalopathy (EE) is an often-severe inborn error of metabolism caused by biallelic variants in the ETHE1 gene leading to impaired detoxification of hydrogen sulfide (H2S). H2S is produced bot...
Psychosocial adaptation of children and adolescents with phenylketonuria in Korea [0.03%]
韩国苯酮尿症儿童和青少年的心理社会适应
Jeongho Lee,Eun Sook Suh
Jeongho Lee
Phenylketonuria (PKU) is one of the most common inherited metabolic disorders. If recognized and treated early, patients can avoid severe complications and maintain normal intellectual functioning. However, despite early and intensive treat...
Renoprotective effects of SGLT2 inhibitors in patients with Fabry disease [0.03%]
SGLT2抑制剂在法布雷病患者中的肾保护作用
Hayaki Okamoto,Shunsuke Goto,Mika Fujita et al.
Hayaki Okamoto et al.
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by globotriaosylceramide (Gb3) accumulation, resulting in kidney and cardiac dysfunction. Although enzyme replacement therapy (ERT...
Ping Pang,Lin Wan,Yan Liang et al.
Ping Pang et al.
Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment. While NKH is typically associated with pathogenic variant...
Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria [0.03%]
如果基因检测未确诊马方综合征则需考虑经典型同型胱氨酸尿：成人兄弟姐妹患经典型同型胱氨酸尿的晚期诊断和表型变异性
Randa Sultan,Jordan Urlacher,Taryn Athey et al.
Randa Sultan et al.
Classical homocystinuria is an inherited metabolic disease of homocysteine metabolism due to biallelic pathogenic variants in CBS. The biochemical hallmark is elevated homocysteine and methionine levels. The treatment consists of betaine su...
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait [0.03%]
SCYL1缺陷及家族内表现度差异性：2例来自 Kuwait 的病例报告
Laila Kazem,Wafaa Al-Qabandi,Buthaina Albash et al.
Laila Kazem et al.
Introduction: Biallelic pathogenic variants in SCYL1 have been reported in 22 individuals to date. Also referred to as CALFAN syndrome (cholestasis, acute liver failure, and neurodegeneration), this condition is character...