Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.

IF 2 3区医学 Q2 PEDIATRICS

BMC Pediatrics Pub Date : 2025-06-04 DOI:10.1186/s12887-025-05822-2

Jagdish Kunwar, Bijay Kunwar, Anup Ghimire, Aramva Bikram Adhikari, Binay Aryal, Sachchu Thapa, Bina Prajapati Manandhar

引用次数: 0

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超越纯合子范式：尼泊尔一例杂合子儿童优先病例的症状性部分生物素酶缺乏症报告。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

BMC Pediatrics PEDIATRICS-

CiteScore

3.70

自引率

4.20%

发文量

683

审稿时长

3-8 weeks

期刊介绍： BMC Pediatrics is an open access journal publishing peer-reviewed research articles in all aspects of health care in neonates, children and adolescents, as well as related molecular genetics, pathophysiology, and epidemiology.