Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
about
Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
P2860
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
description
2011 nî lūn-bûn
@nan
2011年の論文
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2011年学术文章
@wuu
2011年学术文章
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2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Carbamoyl phosphate synthetase ...... ngs in a heterogeneous cohort.
@en
Carbamoyl phosphate synthetase ...... ngs in a heterogeneous cohort.
@nl
type
label
Carbamoyl phosphate synthetase ...... ngs in a heterogeneous cohort.
@en
Carbamoyl phosphate synthetase ...... ngs in a heterogeneous cohort.
@nl
prefLabel
Carbamoyl phosphate synthetase ...... ngs in a heterogeneous cohort.
@en
Carbamoyl phosphate synthetase ...... ngs in a heterogeneous cohort.
@nl
P2093
P1433
P1476
Carbamoyl phosphate synthetase ...... ings in a heterogeneous cohort
@en
P2093
J Thusberg
L De Cosmo
M A Donati
R Guerrini
S D Mooney
S Funghini
P304
P356
10.1016/J.GENE.2011.11.052
P407
P577
2011-12-07T00:00:00Z