Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
about
Energy failure: does it contribute to neurodegeneration?Understanding the susceptibility of dopamine neurons to mitochondrial stressors in Parkinson's disease.Inborn errors of metabolism and expanded newborn screening: review and update.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.Detection of pork adulteration in processed meat by species-specific PCR-QIAxcel procedure based on D-loop and cytb genes.Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
P2860
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P2860
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
description
2012 nî lūn-bûn
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2012年の論文
@ja
2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Guanidinoacetate methyltransfe ...... atable neurometabolic disease.
@en
Guanidinoacetate methyltransfe ...... atable neurometabolic disease.
@nl
type
label
Guanidinoacetate methyltransfe ...... atable neurometabolic disease.
@en
Guanidinoacetate methyltransfe ...... atable neurometabolic disease.
@nl
prefLabel
Guanidinoacetate methyltransfe ...... atable neurometabolic disease.
@en
Guanidinoacetate methyltransfe ...... atable neurometabolic disease.
@nl
P2093
P1476
Guanidinoacetate methyltransfe ...... atable neurometabolic disease.
@en
P2093
G S Salomons
L Sweetman
O J Michel
O T Betsalel
P Ashcraft
S J M van Dooren
S Mercimek-Mahmutoglu
P304
P356
10.1016/J.YMGME.2012.07.022
P577
2012-08-03T00:00:00Z