Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
about
A Japanese adult case of guanidinoacetate methyltransferase deficiency.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass SpectrometryFeasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
P2860
Q37500634-B6319F24-A0CA-4234-A265-12A1C61B1198Q38465134-F87B8CE4-0707-4D85-BC1F-A88B80DE21FCQ38715101-4258AEE1-9D0D-4611-9CEF-82B156B19D97Q40908945-A734324E-9CD2-4DBC-B8E4-B7C9E396991FQ41590882-B1ED46F8-54E0-4E51-800A-ABE1F82528E9Q45192036-6D319AB9-2C65-4ECB-87D2-A7325D596714Q47147854-A137EB26-B03F-4B08-9BED-463FDB788516Q52820616-85D60D73-AE69-429D-9FFC-DFB9E7D72FD9Q55057595-528E086B-476B-4832-943A-114C43BFDC6F
P2860
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Elevation of guanidinoacetate ...... treatment in GAMT deficiency.
@en
type
label
Elevation of guanidinoacetate ...... treatment in GAMT deficiency.
@en
prefLabel
Elevation of guanidinoacetate ...... treatment in GAMT deficiency.
@en
P2093
P1476
Elevation of guanidinoacetate ...... treatment in GAMT deficiency.
@en
P2093
Amie E Vaisnins
Andrea Schlune
Andreas Schulze
Areeg H El-Gharbawy
Bruce A Barshop
David S Millington
Dwight D Koeberl
Jennifer L Goldstein
Sarah P Young
P304
P356
10.1016/J.YMGME.2013.03.003
P577
2013-03-16T00:00:00Z