13 Einträge gefunden

1. German newborn screening for Cystic fibrosis:Parental perspectives and suggestions for improvements

   1. Gapp, Simon
   2. Garbade, Sven F
   3. Feyh, Patrik
   4. Brockow, Inken
   5. Nennstiel, Uta
   6. Hoffmann, Georg F
   7. Sommerburg, Olaf

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. Identification of potential interferents of methylmalonic acid:A previously unrecognized pitfall in clinical diagnostics and newborn screening

   1. Monostori, Péter
   2. Godejohann, Markus
   3. Janda, Joachim
   4. Galla, Zsolt
   5. Rácz, Gábor
   6. Klinke, Glynis
   7. Szatmári, Ildikó

   2023 - Forschungsinformationssystem des UKE
3. Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics

   1. Reischl-Hajiabadi, Anna T
   2. Garbade, Sven F
   3. Feyh, Patrik
   4. Weiss, Karl Heinz
   5. Mütze, Ulrike
   6. Kölker, Stefan
   7. Hoffmann, Georg F

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

   1. Saffari, Afshin
   2. Cannet, Claire
   3. Blaschek, Astrid
   4. Hahn, Andreas
   5. Hoffmann, Georg F
   6. Johannsen, Jessika
   7. Kirsten, Romy

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus

   1. Himmelreich, Nastassja
   2. Dimitrov, Bianca
   3. Geiger, Virginia
   4. Zielonka, Matthias
   5. Hutter, Anna-Marlen
   6. Beedgen, Lars
   7. Hüllen, Andreas

   2019 - Forschungsinformationssystem des UKE
6. Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis

   1. Breil, Thomas
   2. Boettcher, Michael
   3. Hoffmann, Georg F
   4. Ries, Markus

   2018 - Forschungsinformationssystem des UKE - frei zugänglich
7. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

   1. Boy, Nikolas
   2. Mühlhausen, Chris
   3. Maier, Esther M
   4. Heringer, Jana
   5. Assmann, Birgit
   6. Burgard, Peter
   7. Dixon, Marjorie

   2017 - Forschungsinformationssystem des UKE
8. Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

   1. Boy, Nikolas
   2. Haege, Gisela
   3. Heringer, Jana
   4. Assmann, Birgit
   5. Mühlhausen, Chris
   6. Ensenauer, Regina
   7. Maier, Esther M

   2013 - Forschungsinformationssystem des UKE
9. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

   1. Kölker, Stefan
   2. Boy, S P Nikolas
   3. Heringer, Jana
   4. Müller, Edith
   5. Maier, Esther M
   6. Ensenauer, Regina
   7. Mühlhausen, Chris

   2012 - Forschungsinformationssystem des UKE
10. Use of guidelines improves the neurological outcome in glutaric aciduria type I.

    1. Heringer, Jana
    2. Boy, S P Nikolas
    3. Ensenauer, Regina
    4. Assmann, Birgit
    5. Zschocke, Johannes
    6. Harting, Inga
    7. Lücke, Thomas

    2010 - Forschungsinformationssystem des UKE
11. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

    1. Harting, Inga
    2. Neumaier-Probst, Eva
    3. Seitz, Angelika
    4. Maier, Esther M
    5. Assmann, Birgit
    6. Baric, Ivo
    7. Troncoso, Monica

    2009 - Forschungsinformationssystem des UKE
12. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

    1. Jäggi, Leandra
    2. Zurflüh, Marcel R
    3. Schuler, Agnes
    4. Ponzone, Alberto
    5. Porta, Francesco
    6. Fiori, Laura
    7. Giovannini, Marcello

    2008 - Forschungsinformationssystem des UKE
13. Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

    1. Ho, Sirikit
    2. Lukacs, Zoltan
    3. Hoffmann, Georg F
    4. Lindner, Martin
    5. Wetter, Thomas

    2007 - Forschungsinformationssystem des UKE