Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

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Dietary practices in propionic acidemia: A European survey.Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.

P2860

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P2860

Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

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http://www.wikidata.org/entity/Q39526121

description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

@zh-hk

2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Clinical experience with N-car ...... ic and methylmalonic aciduria.

@en

Clinical experience with N-car ...... ic and methylmalonic aciduria.

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type

Item

label

Clinical experience with N-car ...... ic and methylmalonic aciduria.

@en

Clinical experience with N-car ...... ic and methylmalonic aciduria.

@nl

prefLabel

Clinical experience with N-car ...... ic and methylmalonic aciduria.

@en

Clinical experience with N-car ...... ic and methylmalonic aciduria.

@nl

P1476

Clinical experience with N-car ...... ic and methylmalonic aciduria.

@en

P2093

Alberto Burlina

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Chiara Cazzorla

http://www.w3.org/2001/XMLSchema#string

Elisa Zanonato

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Emanuela Viggiano

http://www.w3.org/2001/XMLSchema#string

Ilaria Fasan

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P2860

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia

N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.

Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis.

Stable isotopes in the diagnosis and treatment of inherited hyperammonemia

P304

34-40

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scholarly article

P356

10.1016/J.YMGMR.2016.06.007

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P478

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Giulia Polo

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2016-07-13T00:00:00Z

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27489777

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P932

4949587

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Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

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P2860

P2860

Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

description

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type

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P1433

P1476

P2093

P2860

P304

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P356

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932