Found: 10
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Cystic fibrosis and fat malabsorption: Pathophysiology of the cystic fibrosis gastrointestinal tract and the impact of highly effective CFTR modulator therapy.
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- Nutrition in Clinical Practice, 2024, v. 39, p. S57, doi. 10.1002/ncp.11122
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- Article
Acylglycine Analysis by Ultra‐Performance Liquid Chromatography‐Tandem Mass Spectrometry (UPLC‐MS/MS).
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- Current Protocols, 2023, v. 3, n. 4, p. 1, doi. 10.1002/cpz1.758
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- Article
An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.
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- Clinical Chemistry, 2021, v. 67, n. 9, p. 1290, doi. 10.1093/clinchem/hvab096
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- Article
Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47882-2
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- Article
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
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- Journal of Applied Laboratory Medicine, 2018, p. 222, doi. 10.1373/jalm.2017.025536
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- Article
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 197, doi. 10.1007/s10545-018-0136-9
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- Article
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 423, doi. 10.1007/s10545-017-0015-9
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- Article
Metabolic Remodeling in Moderate Synchronous versus Dyssynchronous Pacing-Induced Heart Failure: Integrated Metabolomics and Proteomics Study.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0118974
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- Article
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
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- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1172, doi. 10.1038/ejhg.2014.12
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- Article
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 231, doi. 10.1007/s10545-013-9662-7
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- Article