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1.
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Mol Genet Metab;
141(3): 108148, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38302374
2.
High throughput newborn screening for aromatic Ê-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
J Inherit Metab Dis;
43(3): 602-610, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31849064
3.
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
Int J Neonatal Screen;
10(1)2024 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38535121
4.
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
Int J Neonatal Screen;
10(1)2024 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38248633
5.
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Clin Biochem;
111: 72-80, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36202155
6.
Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net.
J Cyst Fibros;
21(3): 422-433, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34764021
7.
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening.
J Cyst Fibros;
15(6): 752-758, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27461140
8.
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.
Biochim Biophys Acta;
1584(2-3): 91-8, 2002 Oct 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-12385891
9.
Inactivation of the glucocorticoid receptor in hepatocytes leads to fasting hypoglycemia and ameliorates hyperglycemia in streptozotocin-induced diabetes mellitus.
Mol Endocrinol;
18(6): 1346-53, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15031319
10.
Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation.
Clin Chim Acta;
335(1-2): 137-45, 2003 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-12927695
11.
The endogeneous formation of highly chlorinated tetrahydro-beta-carbolines as a possible causative mechanism in idiopathic Parkinson's disease.
Adv Exp Med Biol;
527: 253-63, 2003.
Artículo
en Inglés
| MEDLINE | ID: mdl-15206739
12.
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
Pediatr Res;
58(5): 873-80, 2005 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-16183823
13.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Pediatrics;
111(6 Pt 1): 1399-406, 2003 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12777559
14.
Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.
J Neurosci Res;
68(4): 424-31, 2002 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-11992468
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