Results 181 to 190 of about 4,590,707 (207)

Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort. [PDF]

Int J Mol Sci
Petrusenko Y, Savin T, Sedykh A, Chekanov N, Klimuk E, Ostankova Y, Kuznetsova R, Chernyshova A, Milichkina A, Totolian A, Severinov K.   +10 more
europepmc   +1 more source

Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report. [PDF]

BMC Pediatr
Thaver S, Ebrahim M, Noorani M, Alimohamed ZM, Edward K, Furia F, Kwayu J, Fidaali Z, Abdallah Y.   +8 more
europepmc   +1 more source

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

Molecular Genetics and Metabolism, 2006
Contains fulltext : 49952.pdf (Publisher’s version ) (Closed access)Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive development ...
Gérard Hornstra
exaly   +2 more sources

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Quantitation of non-derivatized free amino acids for detecting inborn errors of metabolism by incorporating mixed-mode chromatography with tandem mass spectrometry

Journal of Mass Spectrometry and Advances in the Clinical Lab, 2022
Dustin R Bunch
exaly