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. |
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| 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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| ISSN: | 1471-2431 |
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| DOI: | 10.1186/s12887-025-05822-2 |
