Facetten
Zugriff
Einrichtung
Medientyp
- Text 37
Karte
Erscheinungsjahr
Autor/in
- Lukacs, Zoltan
- Santer, René 9
- Kohlschütter, Alfried 6
- Ullrich, Kurt 4
- Giugliani, Roberto 3
- alle zeigen
Sprache
37 Einträge gefunden
-
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
2020 - Forschungsinformationssystem des UKE -
Diagnostic strategy for females suspected of Fabry disease
- Balendran, Sukirthini
- Oliva, Petra
- Sansen, Stefaan
- Mechtler, Thomas P
- Streubel, Berthold
- Cobos, Paulina N
- Lukacs, Zoltan
-
Investigating the suitability of high-resolution mass spectrometry for newborn screening:identification of hemoglobinopathies and β-thalassemias in dried blood spots
- Wiesinger, Thomas
- Mechtler, Thomas
- Schwarz, Markus
- Xie, Xiaolei
- Grosse, Regine
- Nieves Cobos, Paulina
- Kasper, David
-
-
Newborn Screening for Lysosomal Storage Disorders:Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
-
-
-
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
- McGovern, Margaret M
- Dionisi-Vici, Carlo
- Giugliani, Roberto
- Hwu, Paul
- Lidove, Olivier
- Lukacs, Zoltan
- Eugen Mengel, Karl
-
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
- Fietz, Michael
- AlSayed, Moeenaldeen
- Burke, Derek
- Cohen-Pfeffer, Jessica
- Cooper, Jonathan D
- Dvořáková, Lenka
- Giugliani, Roberto
-
-
-
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
2014 - Forschungsinformationssystem des UKE - frei zugänglich -
-
-
Establishment of the first newborn screening program in the People's Democratic Republic of Laos.
- Hoehn, Thomas
- Lukacs, Zoltan
- Stehn, Maren
- Mayatepek, Ertan
- Philavanh, Kedsatha
- Bounnack, Saysanasongkham
-
Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies
- Preisler, Nicolai
- Lukacs, Zoltan
- Vinge, Lotte
- Madsen, Karen Lindhardt
- Husu, Edith
- Hansen, Regitze Sølling
- Duno, Morten
-
Expert recommendations for the laboratory diagnosis of MPS VI.
2012 - Forschungsinformationssystem des UKE -
-
A child with night blindness: preventing serious symptoms of Refsum disease.
- Kohlschütter, Alfried
- Santer, René
- Lukacs, Zoltan
- Altenburg, Christiane
- Kemper, Markus J.
- Rüther, Klaus