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A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency
The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemo...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429241/ https://www.ncbi.nlm.nih.gov/pubmed/28529889 http://dx.doi.org/10.1016/j.ymgmr.2017.04.010 |
| _version_ | 1783235985042046976 |
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| author | Ikeda, Naohiro Maruyama, Shinsuke Nakano, Kanna Imakiire, Ryo Ninomiya, Yumiko Seki, Shunji Yanagimoto, Kosuke Kakihana, Yasuyuki Hara, Keiichi Tajima, Go Okamoto, Yasuhiro Kawano, Yoshifumi |
| author_facet | Ikeda, Naohiro Maruyama, Shinsuke Nakano, Kanna Imakiire, Ryo Ninomiya, Yumiko Seki, Shunji Yanagimoto, Kosuke Kakihana, Yasuyuki Hara, Keiichi Tajima, Go Okamoto, Yasuhiro Kawano, Yoshifumi |
| author_sort | Ikeda, Naohiro |
| collection | PubMed |
| description | The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency. |
| format | Online Article Text |
| id | pubmed-5429241 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-54292412017-05-19 A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency Ikeda, Naohiro Maruyama, Shinsuke Nakano, Kanna Imakiire, Ryo Ninomiya, Yumiko Seki, Shunji Yanagimoto, Kosuke Kakihana, Yasuyuki Hara, Keiichi Tajima, Go Okamoto, Yasuhiro Kawano, Yoshifumi Mol Genet Metab Rep Short Communication The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency. Elsevier 2017-05-09 /pmc/articles/PMC5429241/ /pubmed/28529889 http://dx.doi.org/10.1016/j.ymgmr.2017.04.010 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Short Communication Ikeda, Naohiro Maruyama, Shinsuke Nakano, Kanna Imakiire, Ryo Ninomiya, Yumiko Seki, Shunji Yanagimoto, Kosuke Kakihana, Yasuyuki Hara, Keiichi Tajima, Go Okamoto, Yasuhiro Kawano, Yoshifumi A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency |
| title | A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency |
| title_full | A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency |
| title_fullStr | A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency |
| title_full_unstemmed | A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency |
| title_short | A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency |
| title_sort | surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase ii deficiency |
| topic | Short Communication |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429241/ https://www.ncbi.nlm.nih.gov/pubmed/28529889 http://dx.doi.org/10.1016/j.ymgmr.2017.04.010 |
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