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Your search keyword '"M F, Lei"' showing total 3 results
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3 results on '"M F, Lei"'

1. [Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study]

Author

L F, Yu, Y Q, Zhang, J, Duan, Y, Ni, X Y, Gong, Z Y, Lu, J X, Liao, X P, Lu, Z N, Shi, M F, Lei, J M, Zhong, J, Zha, and S Z, Zhou

Subjects
Male, Glucose Transporter Type 1, Monosaccharide Transport Proteins, Child, Preschool, Humans, Infant, Female, Child, Diet, Ketogenic, Carbohydrate Metabolism, Inborn Errors, Retrospective Studies
Published
2020

2. [Severe proximal renal tubular acidosis with ocular abnormalities caused by SLC4A4 gene variation: a case report]

Author

Y, Liu, W W, Wang, M F, Lei, and W Y, Chen

Subjects
Sodium-Bicarbonate Symporters, Mutation, Missense, Humans, Acidosis, Renal Tubular
Abstract

患儿女，5岁3月龄，因肢体无力3个月余入院，生长发育落后于同龄儿、严重酸中毒，低钾血症；双眼玻璃体混浊，角膜基质灰白混浊；头颅磁共振成像示双侧基底节区可见对称性斑片状致密影。基因检测发现患儿SLC4A4基因外显子区域存在1个c.145CT杂合变异，与其父检测结果一致；内含子区域存在一个c.1499+1GA杂合变异，与其母检测结果一致。患儿以严重的代谢性酸中毒为特点，且伴有多系统病变，应注意先天遗传代谢性疾病，尽早行基因检测。.

Published
2020

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