Cargando…
Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454308/ https://www.ncbi.nlm.nih.gov/pubmed/31041399 http://dx.doi.org/10.1212/NXG.0000000000000319 |
| _version_ | 1783409552159408128 |
|---|---|
| author | Nakagama, Yu Hamanaka, Kohei Mimaki, Masakazu Shintaku, Haruo Miyatake, Satoko Matsumoto, Naomichi Hirohata, Koji Inuzuka, Ryo Oka, Akira |
| author_facet | Nakagama, Yu Hamanaka, Kohei Mimaki, Masakazu Shintaku, Haruo Miyatake, Satoko Matsumoto, Naomichi Hirohata, Koji Inuzuka, Ryo Oka, Akira |
| author_sort | Nakagama, Yu |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-6454308 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Wolters Kluwer |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-64543082019-04-30 Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? Nakagama, Yu Hamanaka, Kohei Mimaki, Masakazu Shintaku, Haruo Miyatake, Satoko Matsumoto, Naomichi Hirohata, Koji Inuzuka, Ryo Oka, Akira Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2019-03-25 /pmc/articles/PMC6454308/ /pubmed/31041399 http://dx.doi.org/10.1212/NXG.0000000000000319 Text en Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| spellingShingle | Clinical/Scientific Notes Nakagama, Yu Hamanaka, Kohei Mimaki, Masakazu Shintaku, Haruo Miyatake, Satoko Matsumoto, Naomichi Hirohata, Koji Inuzuka, Ryo Oka, Akira Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? |
| title | Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? |
| title_full | Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? |
| title_fullStr | Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? |
| title_full_unstemmed | Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? |
| title_short | Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? |
| title_sort | leaky splicing variant in sepiapterin reductase deficiency: are milder cases escaping diagnosis? |
| topic | Clinical/Scientific Notes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454308/ https://www.ncbi.nlm.nih.gov/pubmed/31041399 http://dx.doi.org/10.1212/NXG.0000000000000319 |
| work_keys_str_mv | AT nakagamayu leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT hamanakakohei leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT mimakimasakazu leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT shintakuharuo leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT miyatakesatoko leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT matsumotonaomichi leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT hirohatakoji leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT inuzukaryo leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis AT okaakira leakysplicingvariantinsepiapterinreductasedeficiencyaremildercasesescapingdiagnosis |