Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.
about
Cystinosis: a reviewFirst two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?Clinical utility gene card for: cystinosis.Sedoheptulose kinase regulates cellular carbohydrate metabolism by sedoheptulose 7-phosphate supply.The use of mass spectrometry to analyze dried blood spots.Management dilemmas in pediatric nephrology: Cystinosis.
P2860
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Elevated concentrations of sed ...... ostics and neonatal screening.
@en
Elevated concentrations of sed ...... ostics and neonatal screening.
@nl
type
label
Elevated concentrations of sed ...... ostics and neonatal screening.
@en
Elevated concentrations of sed ...... ostics and neonatal screening.
@nl
prefLabel
Elevated concentrations of sed ...... ostics and neonatal screening.
@en
Elevated concentrations of sed ...... ostics and neonatal screening.
@nl
P2093
P1476
Elevated concentrations of sed ...... nostics and neonatal screening
@en
P2093
E A Struys
E E W Jansen
E N Levtchenko
M M C Wamelink
P304
P356
10.1016/J.YMGME.2010.12.002
P577
2010-12-13T00:00:00Z