Format

Send to:

Choose Destination

Glutaric aciduria 2

MedGen UID:
444033
Concept ID:
C2931346
Disease or Syndrome
Synonyms: Glutaric acidemia 2 A
 

Recent clinical studies

Etiology

Augustin P, Toplak M, Fuchs K, Gerstmann EC, Prassl R, Winkler A, Macheroux P
J Biol Chem 2018 Feb 23;293(8):2829-2840. Epub 2018 Jan 4 doi: 10.1074/jbc.RA117.000846. PMID: 29301933Free PMC Article
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. PMID: 21088898Free PMC Article
Wasant P, Kuptanon C, Vattanavicharn N, Liammongkolkul S, Ratanarak P, Sangruchi T, Yamaguchi S
Pediatr Neurol 2010 Oct;43(4):279-82. doi: 10.1016/j.pediatrneurol.2010.05.018. PMID: 20837308

Diagnosis

Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. PMID: 21088898Free PMC Article
Wasant P, Kuptanon C, Vattanavicharn N, Liammongkolkul S, Ratanarak P, Sangruchi T, Yamaguchi S
Pediatr Neurol 2010 Oct;43(4):279-82. doi: 10.1016/j.pediatrneurol.2010.05.018. PMID: 20837308

Prognosis

Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. PMID: 21088898Free PMC Article

Clinical prediction guides

Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. PMID: 21088898Free PMC Article

Supplemental Content

Table of contents

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center