Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
about
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.Glutaric Acidemia Type 1: A Case of Infantile Stroke.Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.Impairment of astrocytic glutaminolysis in glutaric aciduria type I.Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.Food triggers and inherited metabolic disorders: a challenge to the pediatrician.Organic acidurias in adults: late complications and management.
P2860
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P2860
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Proposed recommendations for d ...... duria type I: second revision.
@en
Proposed recommendations for d ...... duria type I: second revision.
@nl
type
label
Proposed recommendations for d ...... duria type I: second revision.
@en
Proposed recommendations for d ...... duria type I: second revision.
@nl
prefLabel
Proposed recommendations for d ...... duria type I: second revision.
@en
Proposed recommendations for d ...... duria type I: second revision.
@nl
P2093
P2860
P1476
Proposed recommendations for d ...... iduria type I: second revision
@en
P2093
Additional individual contributors
Birgit Assmann
Cheryl R Greenberg
Daniela Karall
David M Koeller
Esther M Maier
Georg F Hoffmann
Inga Harting
Jana Heringer
Johannes Zschocke
P2860
P2888
P304
P356
10.1007/S10545-016-9999-9
P577
2016-11-16T00:00:00Z