Nolan Tual
Overview
Explore the profile of Nolan Tual including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
2
Citations
8
Followers
0
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Related Specialty
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Top 10 Co-Authors
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Published In
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Recent Articles
1.
Pontoizeau C, Gaborit C, Tual N, Simon-Sola M, Rotaru I, Benoist M, et al.
J Inherit Metab Dis
. 2023 Mar;
47(1):41-49.
PMID: 36880392
Maple syrup urine disease (MSUD) is rare autosomal recessive metabolic disorder caused by the dysfunction of the mitochondrial branched-chain 2-ketoacid dehydrogenase (BCKD) enzyme complex leading to massive accumulation of branched-chain...
2.
Pontoizeau C, Simon-Sola M, Gaborit C, Nguyen V, Rotaru I, Tual N, et al.
Nat Commun
. 2022 Jun;
13(1):3278.
PMID: 35672312
Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder causing accumulation of branched chain amino acids leading to neonatal death, if untreated. Treatment for MSUD represents an...