Suchergebnisse - "Véronique Rüfenacht"

1

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

von: Jasmine Isler

2020, in: JIMD Reports

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2

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

von: Marta Spodenkiewicz

2016, in: Biology

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3

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

von: Ana Rivera-Barahona

2015, in: PLoS ONE

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4

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.

von: Ana Rivera-Barahona

2015, in: PLoS ONE

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5

Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism

von: Georgios Makris

2023, in: Cancer Communications

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6

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

von: Sunita Bijarnia-Mahay

2018, in: Orphanet Journal of Rare Diseases

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7

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

von: Leandro R. Soria

2022, in: Nature Communications

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