Results 111 to 120 of about 1,288 (135)

Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning. [PDF]

Nutr Metab (Lond)
Wang P, Zhou D, Hu L, Ge P, Cen Z, Hu Z, He Q, Zhou K, Wu B, Huang X.   +9 more
europepmc   +1 more source

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review. [PDF]

J Inherit Metab Dis
Gil-González M, Arias C, Saudubray JM, Colomé-Roura R, García-Cazorla Á.   +4 more
europepmc   +1 more source

Identification of Potential Biomarkers for Patients with DWI-Negative Ischemic Stroke. [PDF]

J Mol Neurosci
Li L, Wang Y.
europepmc   +1 more source

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Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism

Clinical Biochemistry, 2005
To set up a novel simple, sensitive, and reliable ion-pairing HPLC method for the synchronous separation of several purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis and screening of inborn errors of metabolism (IEM).The separation was set up using a Hypersil C-18, 5-microm particle size, 250 x 4.6 mm ...
TAVAZZI B, LAZZARINO, Giuseppe, LEONE P, AMORINI AM, BELLIA F, JANSON CG, DI PIETRO V, CECCARELLI L, DONZELLI S, FRANCIS JS, GIARDINA B.   +10 more
openaire   +5 more sources

Suppressing quantum errors by scaling a surface code logical qubit

Nature, 2023
, , Joseph Bardin
exaly  

Exponential suppression of bit or phase errors with cyclic error correction

Nature, 2021
Kevin J Satzinger, Andrew Dunsworth, Daniel Sank   +2 more
exaly  

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Science, 2020
Qian Zhang, Paul Bastard, Zhiyong Liu
exaly  

Gene therapy for inborn errors of immunity: past, present and future

Nature Reviews Immunology, 2022
Alain Fischer
exaly  

The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature Medicine, 2020
Aashish N Adhikari, Renata C Gallagher, Yaqiong Wang   +2 more
exaly  

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of Clinical Immunology, 2022
Stuart G Tangye, Waleed Al-Herz, Steven M Holland   +2 more
exaly