37 Einträge gefunden

1. Investigating the suitability of high-resolution mass spectrometry for newborn screening:identification of hemoglobinopathies and β-thalassemias in dried blood spots

   1. Wiesinger, Thomas
   2. Mechtler, Thomas
   3. Schwarz, Markus
   4. Xie, Xiaolei
   5. Grosse, Regine
   6. Nieves Cobos, Paulina
   7. Kasper, David

   2020 - Forschungsinformationssystem des UKE
2. At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

   1. Lukacs, Zoltan
   2. Oliva, Petra
   3. Nieves Cobos, Paulina
   4. Scott, Jacob
   5. Mechtler, Thomas P
   6. Kasper, David C

   2020 - Forschungsinformationssystem des UKE
3. Diagnostic strategy for females suspected of Fabry disease

   1. Balendran, Sukirthini
   2. Oliva, Petra
   3. Sansen, Stefaan
   4. Mechtler, Thomas P
   5. Streubel, Berthold
   6. Cobos, Paulina N
   7. Lukacs, Zoltan

   2020 - Forschungsinformationssystem des UKE
4. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

   1. Wasserstein, Melissa
   2. Dionisi-Vici, Carlo
   3. Giugliani, Roberto
   4. Hwu, Wuh-Liang
   5. Lidove, Olivier
   6. Lukacs, Zoltan
   7. Mengel, Eugen

   2019 - Forschungsinformationssystem des UKE
5. Newborn Screening for Lysosomal Storage Disorders:Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

   1. Gelb, Michael H
   2. Lukacs, Zoltan
   3. Ranieri, Enzo
   4. Schielen, Peter C J I

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
6. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

   1. Lukacs, Zoltan
   2. Nickel, Miriam
   3. Murko, Simona
   4. Nieves Cobos, Paulina
   5. Schulz, Angela
   6. Santer, René
   7. Kohlschütter, Alfried

   2019 - Forschungsinformationssystem des UKE
7. Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation

   1. Koehne, Till
   2. Müller-Stöver, Sarah
   3. Köhn, Anja
   4. Stumpfe, Katharina
   5. Lezius, Susanne
   6. Schmid, Carmen
   7. Lukacs, Zoltan

   2019 - Forschungsinformationssystem des UKE
8. Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

   1. Hu, Hao
   2. Hübner, Christoph
   3. Lukacs, Zoltan
   4. Musante, Luciana
   5. Gill, Esther
   6. Wienker, Thomas F
   7. Ropers, Hans-Hilger

   2017 - Forschungsinformationssystem des UKE
9. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

   1. McGovern, Margaret M
   2. Dionisi-Vici, Carlo
   3. Giugliani, Roberto
   4. Hwu, Paul
   5. Lidove, Olivier
   6. Lukacs, Zoltan
   7. Eugen Mengel, Karl

   2017 - Forschungsinformationssystem des UKE
10. The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area)

    1. Grosse, Regine
    2. Lukacs, Zoltan
    3. Cobos, Paulina Nieves
    4. Oyen, Florian
    5. Ehmen, Christa
    6. Muntau, Birgit
    7. Timmann, Christian

    2016 - Forschungsinformationssystem des UKE
11. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

    1. Fietz, Michael
    2. AlSayed, Moeenaldeen
    3. Burke, Derek
    4. Cohen-Pfeffer, Jessica
    5. Cooper, Jonathan D
    6. Dvořáková, Lenka
    7. Giugliani, Roberto

    2016 - Forschungsinformationssystem des UKE
12. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

    1. Mühlhausen, Chris
    2. Salomons, Gajja S
    3. Lukacs, Zoltan
    4. Struys, Eduard A
    5. van der Knaap, Marjo S
    6. Ullrich, Kurt
    7. Santer, René

    2014 - Forschungsinformationssystem des UKE
13. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

    1. Cobos, Paulina Nieves
    2. Steglich, Cordula
    3. Santer, René
    4. Lukacs, Zoltan
    5. Gal, Andreas

    2014 - Forschungsinformationssystem des UKE - frei zugänglich
14. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

    1. Vissing, John
    2. Lukacs, Zoltan
    3. Straub, Volker

    2013 - Forschungsinformationssystem des UKE
15. Screening of high-risk Gaucher disease patients using dried blood spots techniques

    1. Vairo, Filippo
    2. Netto, Cristina
    3. Tirelli, Kristiane Michelin
    4. Siebert, Marina
    5. Burin, Maira
    6. Saraiva-Pereira, Maria Luiza
    7. Balreira, Andrea

    2013 - Forschungsinformationssystem des UKE
16. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

    1. Preisler, Nicolai
    2. Lukacs, Zoltan
    3. Vinge, Lotte
    4. Madsen, Karen Lindhardt
    5. Husu, Edith
    6. Hansen, Regitze Sølling
    7. Duno, Morten

    2013 - Forschungsinformationssystem des UKE
17. Establishment of the first newborn screening program in the People's Democratic Republic of Laos.

    1. Hoehn, Thomas
    2. Lukacs, Zoltan
    3. Stehn, Maren
    4. Mayatepek, Ertan
    5. Philavanh, Kedsatha
    6. Bounnack, Saysanasongkham

    2013 - Forschungsinformationssystem des UKE
18. Fat and carbohydrate metabolism during exercise in late-onset Pompe disease.

    1. Preisler, Nicolai
    2. Laforet, Pascal
    3. Madsen, Karen Lindhardt
    4. Hansen, Regitze Sølling
    5. Lukacs, Zoltan
    6. Ørngreen, Mette Cathrine
    7. Lacour, Arnaud

    2012 - Forschungsinformationssystem des UKE
19. Expert recommendations for the laboratory diagnosis of MPS VI.

    1. Wood, T
    2. Bodamer, O A
    3. Burin, M G
    4. D'Almeida, V
    5. Fietz, M
    6. Giugliani, R
    7. Hawley, S M

    2012 - Forschungsinformationssystem des UKE
20. A child with night blindness: preventing serious symptoms of Refsum disease.

    1. Kohlschütter, Alfried
    2. Santer, René
    3. Lukacs, Zoltan
    4. Altenburg, Christiane
    5. Kemper, Markus J.
    6. Rüther, Klaus

    2012 - Forschungsinformationssystem des UKE