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Levels of Circulating Ketone Bodies in Patients Undergoing Cardiac Surgery on Cardiopulmonary Bypass.
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- Cells (2073-4409), 2024, v. 13, n. 4, p. 294, doi. 10.3390/cells13040294
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- Article
Validation of a Food Frequency Questionnaire to Assess Intake of n-3 Polyunsaturated Fatty Acids in Switzerland.
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- Nutrients, 2019, v. 11, n. 8, p. 1863, doi. 10.3390/nu11081863
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- Article
ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101847
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- Article
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 129, doi. 10.1002/jimd.12569
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- Article
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 926, doi. 10.1002/jimd.12523
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- Article
LC‐MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1102, doi. 10.1002/jimd.12244
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- Article
Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 891, doi. 10.1002/jimd.12214
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- Article
New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 620, doi. 10.1002/jimd.12076
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- Article
The value of plasma vitamin B profiles in early onset epileptic encephalopathies.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 733, doi. 10.1007/s10545-016-9955-8
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- Article
N-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 131, doi. 10.1007/s10545-015-9876-y
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- Article
Specific GAG ratios in the diagnosis of mucopolysaccharidoses.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 116, doi. 10.1002/jmd2.12412
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- Article
Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 44, doi. 10.1002/jmd2.12182
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- Article