Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Korean Child Neurology Society
2024-01-01
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Series: | Annals of Child Neurology |
Online Access: | http://annchildneurol.org/upload/pdf/acn-2023-00192.pdf |
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author | Ye-Na Kim Mi-Sun Yum Min-Jee Kim Tae-Sung Ko |
author_facet | Ye-Na Kim Mi-Sun Yum Min-Jee Kim Tae-Sung Ko |
author_sort | Ye-Na Kim |
collection | DOAJ |
first_indexed | 2024-03-08T15:28:34Z |
format | Article |
id | doaj.art-7627c5d210374c95a9a826aab5f7805b |
institution | Directory Open Access Journal |
issn | 2635-909X 2635-9103 |
language | English |
last_indexed | 2024-03-08T15:28:34Z |
publishDate | 2024-01-01 |
publisher | Korean Child Neurology Society |
record_format | Article |
series | Annals of Child Neurology |
spelling | doaj.art-7627c5d210374c95a9a826aab5f7805b2024-01-10T07:34:23ZengKorean Child Neurology SocietyAnnals of Child Neurology2635-909X2635-91032024-01-01321576110.26815/acn.2023.001921337Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent SeizuresYe-Na Kim0Mi-Sun YumMin-Jee Kim1Tae-Sung Ko2Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, KoreaDepartment of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, KoreaDepartment of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Koreahttp://annchildneurol.org/upload/pdf/acn-2023-00192.pdf |
spellingShingle | Ye-Na Kim Mi-Sun Yum Min-Jee Kim Tae-Sung Ko Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures Annals of Child Neurology |
title | Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures |
title_full | Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures |
title_fullStr | Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures |
title_full_unstemmed | Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures |
title_short | Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures |
title_sort | profound biotinidase deficiency a rare but treatable inborn error of metabolism in a neonate with recurrent seizures |
url | http://annchildneurol.org/upload/pdf/acn-2023-00192.pdf |
work_keys_str_mv | AT yenakim profoundbiotinidasedeficiencyararebuttreatableinbornerrorofmetabolisminaneonatewithrecurrentseizures AT misunyum profoundbiotinidasedeficiencyararebuttreatableinbornerrorofmetabolisminaneonatewithrecurrentseizures AT minjeekim profoundbiotinidasedeficiencyararebuttreatableinbornerrorofmetabolisminaneonatewithrecurrentseizures AT taesungko profoundbiotinidasedeficiencyararebuttreatableinbornerrorofmetabolisminaneonatewithrecurrentseizures |