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1.
Optimising urinary catecholamine metabolite diagnostics for neuroblastoma.
Pediatr Blood Cancer;
70(6): e30289, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37010353
2.
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Dev Med Child Neurol;
64(6): 789-798, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35080266
3.
Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.
J Inherit Metab Dis;
43(4): 843-851, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31990370
4.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis;
43(4): 787-799, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31955429
5.
Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.
Int J Mol Sci;
21(3)2020 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32024143
6.
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.
Mol Genet Metab;
127(1): 51-57, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30926434
7.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Mol Genet Metab;
127(4): 368-372, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31311714
8.
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis;
42(1): 159-168, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740737
9.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
J Inherit Metab Dis;
42(3): 414-423, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30761551
10.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Int J Neonatal Screen;
10(1)2024 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38535124
11.
Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU.
Mol Genet Metab;
109(2): 121-4, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23562298
12.
Differences between acylcarnitine profiles in plasma and bloodspots.
Mol Genet Metab;
110(1-2): 116-21, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23639448
13.
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns.
JIMD Rep;
64(1): 57-64, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36636597
14.
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Front Mol Biosci;
10: 1283083, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38028537
15.
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Biol Blood Marrow Transplant;
16(5): 701-4, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20096360
16.
Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage.
J Inherit Metab Dis;
33 Suppl 3: S283-8, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20574715
17.
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Mol Genet Metab Rep;
22: 100551, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31908951
18.
Neonatal carnitine concentrations in relation to gestational age and weight.
JIMD Rep;
56(1): 95-104, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33204600
19.
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Biochim Biophys Acta Mol Basis Dis;
1866(6): 165725, 2020 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32061778
20.
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Metabolites;
10(5)2020 May 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-32443577