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

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Title: Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.
Authors: Kunwar J; Department of Pediatrics, National Academy of Medical Sciences, Kanti Children's Hospital, Kathmandu, Nepal., Kunwar B; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal. bijaykunwar10@gmail.com., Ghimire A; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal., Adhikari AB; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal., Aryal B; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal., Thapa S; Department of Radiodiagnosis, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal., Manandhar BP; Department of Pediatrics, National Academy of Medical Sciences, Kanti Children's Hospital, Kathmandu, Nepal.
Source: BMC pediatrics [BMC Pediatr] 2025 Jun 04; Vol. 25 (1), pp. 450. Date of Electronic Publication: 2025 Jun 04.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
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  Data: Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.
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  Data: <searchLink fieldCode="AU" term="%22Kunwar+J%22">Kunwar J</searchLink>; Department of Pediatrics, National Academy of Medical Sciences, Kanti Children's Hospital, Kathmandu, Nepal.<br /><searchLink fieldCode="AU" term="%22Kunwar+B%22">Kunwar B</searchLink>; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal. bijaykunwar10@gmail.com.<br /><searchLink fieldCode="AU" term="%22Ghimire+A%22">Ghimire A</searchLink>; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal.<br /><searchLink fieldCode="AU" term="%22Adhikari+AB%22">Adhikari AB</searchLink>; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal.<br /><searchLink fieldCode="AU" term="%22Aryal+B%22">Aryal B</searchLink>; Tribhuvan University Institute of Medicine, Maharajgunj Medical Campus, P.O. Box: 1524, Kathmandu-3, Kathmandu District, Kathmandu, Bagmati, Nepal.<br /><searchLink fieldCode="AU" term="%22Thapa+S%22">Thapa S</searchLink>; Department of Radiodiagnosis, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal.<br /><searchLink fieldCode="AU" term="%22Manandhar+BP%22">Manandhar BP</searchLink>; Department of Pediatrics, National Academy of Medical Sciences, Kanti Children's Hospital, Kathmandu, Nepal.
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  Data: <searchLink fieldCode="JN" term="%22100967804%22">BMC pediatrics</searchLink> [BMC Pediatr] 2025 Jun 04; Vol. 25 (1), pp. 450. <i>Date of Electronic Publication: </i>2025 Jun 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100967804 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2431 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712431%22">14712431 </searchLink><i>NLM ISO Abbreviation: </i>BMC Pediatr <i>Subsets: </i>MEDLINE; In Process
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        Value: 10.1186/s12887-025-05822-2
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        Text: English
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      – TitleFull: Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.
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              Text: 2025 Jun 04
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              Y: 2025
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