Lv3
250 积分 2023-05-22 加入
Corneal deposits and nerve alterations in Bietti Corneoretinal Crystalline Dystrophy imaged using in vivo confocal microscopy
8天前
已完结
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
26天前
已完结
QARS1基因相关谷氨酰胺tRNA合成酶缺陷综合征三例并文献复习
1个月前
已完结
A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism
1个月前
已完结
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders
1个月前
已完结
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Outcomes of allogeneic hematopoietic stem cell transplantation for primary hemophagocytic lymphohistiocytosis in adults
1个月前
已完结
IVD基因复合杂合变异导致异戊酸血症一例
1个月前
已完结
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation
2个月前
已完结
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