Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302374
2.
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care.
Eur J Pediatr
; 180(4): 1145-1155, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33104872
3.
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
Mol Genet Metab
; 131(1-2): 163-170, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32675002
4.
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.
J Pediatr
; 216: 165-172.e4, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604629
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31849064
6.
Genetic cause and prevalence of hydroxyprolinemia.
J Inherit Metab Dis
; 39(5): 625-632, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27139199
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248633
8.
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria.
Metabolites
; 13(2)2023 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36837923
9.
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements.
Pediatr Pulmonol
; 58(3): 844-852, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444714
10.
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
PLoS One
; 18(3): e0283024, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897914
11.
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
Nutrients
; 15(15)2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37571294
12.
Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics.
Nutrients
; 14(18)2022 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36145143
13.
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.
World J Pediatr
; 14(5): 470-481, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29948967
14.
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.
J Biol Chem
; 277(17): 14674-80, 2002 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-11847233