Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
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Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine.A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and MicrocephalyExome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
P2860
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
name
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@ast
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@en
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@nl
type
label
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@ast
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@en
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@nl
prefLabel
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@ast
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@en
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@nl
P2093
P2860
P1476
Clinical, biochemical and mole ...... p.R326Q) mutation [corrected].
@en
P2093
Akira Yoneyama
André B P van Kuilenburg
Doreen Dobritzsch
Hiroshi Mitsubuchi
Jeroen Roelofsen
Judith Meijer
Kayoko Saito
Kazuhide Ohta
Kyoko Tashiro
P2860
P2888
P304
P356
10.1007/S10545-014-9682-Y
P577
2014-02-14T00:00:00Z
P5875
P6179
1023161913