Detalhe da pesquisa
1.
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
J Inherit Metab Dis
; 44(4): 916-925, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580884
2.
Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns.
Ann Hematol
; 98(1): 47-53, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30132072
3.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Br J Haematol
; 183(4): 648-660, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334577
4.
Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
Ann Hematol
; 101(8): 1859-1860, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293609
5.
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
J Inherit Metab Dis
; 34(2): 399-407, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21290184
6.
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Front Immunol
; 11: 1948, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33178177
7.
False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.
J Inherit Metab Dis
; 32 Suppl 1: S355-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20033292
8.
Competitive inhibition of amino acid uptake suppresses chlamydial growth: involvement of the chlamydial amino acid transporter BrnQ.
J Bacteriol
; 190(5): 1822-30, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18024516
9.
On the time behaviour of the concentration of pyrazinium radical cations in the early stage of the Maillard reaction.
Spectrochim Acta A Mol Biomol Spectrosc
; 67(5): 1161-8, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17101290
10.
Applicability of gradient liquid chromatography with tandem mass spectrometry to the simultaneous screening for about 100 pesticides in crops.
J AOAC Int
; 86(5): 1015-37, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14632406
11.
Newborn screening for sickle cell disease: technical and legal aspects of a German pilot study with 38,220 participants.
Biomed Res Int
; 2014: 695828, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25147811
12.
Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany.
Eur J Hum Genet
; 22(8): 1051-3, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24398797
13.
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?
Mol Cell Endocrinol
; 349(2): 195-201, 2012 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22061622
14.
Newborn screening from an international perspective--different countries, different approaches.
Clin Biochem
; 44(7): 471-472, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036330