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Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever

L-2 Hydroxyglutaric aciduria is a rare metabolic disorder which is autosomal recessive in inheritance. It is characterised by the increased urinary excretion of L-2 hydroxyglutaric acid and the diagnosis is based on the increased levels of the L-2 hydroxy glutaric acid in the urine, serum & CSF....

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Ann Indian Acad Neurol
Κύριοι συγγραφείς: Kumar, Suresh, Bhatia, Shikha, Surya, Mukesh, Sharma, Sanjiv
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Wolters Kluwer - Medknow 2020
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7313586/
https://ncbi.nlm.nih.gov/pubmed/32606526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_385_18
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