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Congenital methemoglobinemia type II in a 5‐year‐old boy.
- Source :
-
Clinical Case Reports . Jan2018, Vol. 6 Issue 1, p170-178. 9p. - Publication Year :
- 2018
-
Abstract
- Key Clinical Message: Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, <italic>CYB5R3</italic>, 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *LEUKODYSTROPHY
*NEUROLOGICAL errors
*EPILEPSY
*RARE diseases
Subjects
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 6
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- 127390717
- Full Text :
- https://doi.org/10.1002/ccr3.1310