Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
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Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsCreatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.Disorders of creatine transport and metabolism.Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
P2860
Q30880728-89D0A2F5-E4E8-49D6-B5FB-13DCBD21D881Q36556209-5106D461-EE9D-4779-854A-27A9A6A7F2C1Q37002978-845BE825-0299-45E6-BBA7-D48F10E918F2Q47836956-BC6FF9E5-20F7-4A94-8BBB-B17EF2C09BEBQ50310442-2F2DFDD6-A962-4515-8BF3-188FE27C5DEEQ50312835-9E992AD0-4ABB-437F-B972-ED0EA283C0D1Q54349424-5C8105DA-1A28-46C2-B0D2-5477DFA6FBCC
P2860
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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name
Screening for X-linked creatin ...... o by tandem mass-spectrometry.
@en
Screening for X-linked creatine transporter
@nl
type
label
Screening for X-linked creatin ...... o by tandem mass-spectrometry.
@en
Screening for X-linked creatine transporter
@nl
prefLabel
Screening for X-linked creatin ...... o by tandem mass-spectrometry.
@en
Screening for X-linked creatine transporter
@nl
P2093
P1476
Screening for X-linked creatin ...... o by tandem mass-spectrometry.
@en
P2093
Adolf Muehl
Birgit Neophytou
Cornelis Jakobs
Dorothea Moeslinger
Eduard Struys
Gajja S Salomons
Olaf A Bodamer
P304
P356
10.1016/J.YMGME.2008.12.020
P577
2009-02-01T00:00:00Z