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Congenital methemoglobinemia type II in a 5‐year‐old boy
Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on th...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771927/ https://www.ncbi.nlm.nih.gov/pubmed/29375859 http://dx.doi.org/10.1002/ccr3.1310 |
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author | Mannino, Elizabeth A. Pluim, Thomas Wessler, Jacob Cho, Megan T. Juusola, Jane Schrier Vergano, Samantha A. |
author_facet | Mannino, Elizabeth A. Pluim, Thomas Wessler, Jacob Cho, Megan T. Juusola, Jane Schrier Vergano, Samantha A. |
author_sort | Mannino, Elizabeth A. |
collection | PubMed |
description | Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger‐scale genetic studies. |
format | Online Article Text |
id | pubmed-5771927 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-57719272018-01-26 Congenital methemoglobinemia type II in a 5‐year‐old boy Mannino, Elizabeth A. Pluim, Thomas Wessler, Jacob Cho, Megan T. Juusola, Jane Schrier Vergano, Samantha A. Clin Case Rep Case Reports Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger‐scale genetic studies. John Wiley and Sons Inc. 2017-12-07 /pmc/articles/PMC5771927/ /pubmed/29375859 http://dx.doi.org/10.1002/ccr3.1310 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Reports Mannino, Elizabeth A. Pluim, Thomas Wessler, Jacob Cho, Megan T. Juusola, Jane Schrier Vergano, Samantha A. Congenital methemoglobinemia type II in a 5‐year‐old boy |
title | Congenital methemoglobinemia type II in a 5‐year‐old boy |
title_full | Congenital methemoglobinemia type II in a 5‐year‐old boy |
title_fullStr | Congenital methemoglobinemia type II in a 5‐year‐old boy |
title_full_unstemmed | Congenital methemoglobinemia type II in a 5‐year‐old boy |
title_short | Congenital methemoglobinemia type II in a 5‐year‐old boy |
title_sort | congenital methemoglobinemia type ii in a 5‐year‐old boy |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771927/ https://www.ncbi.nlm.nih.gov/pubmed/29375859 http://dx.doi.org/10.1002/ccr3.1310 |
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