12 Einträge gefunden

1. 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
2. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

   1. Schnabel, Elena
   2. Kölker, Stefan
   3. Gleich, Florian
   4. Feyh, Patrik
   5. Hörster, Friederike
   6. Haas, Dorothea
   7. Fang-Hoffmann, Junmin

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
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. Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

   1. Jamiolkowski, Dagmar
   2. Kölker, Stefan
   3. Glahn, Esther M
   4. Barić, Ivo
   5. Zeman, Jiri
   6. Baumgartner, Matthias R
   7. Mühlhausen, Chris

   2016 - Forschungsinformationssystem des UKE
6. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

   1. Kölker, Stefan
   2. Cazorla, Angeles Garcia
   3. Valayannopoulos, Vassili
   4. Lund, Allan M
   5. Burlina, Alberto B
   6. Sykut-Cegielska, Jolanta
   7. Wijburg, Frits A

   2015 - Forschungsinformationssystem des UKE
7. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

   1. Kölker, Stefan
   2. Valayannopoulos, Vassili
   3. Burlina, Alberto B
   4. Sykut-Cegielska, Jolanta
   5. Wijburg, Frits A
   6. Teles, Elisa Leão
   7. Zeman, Jiri

   2015 - Forschungsinformationssystem des UKE
8. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

   1. Grünert, Sarah C
   2. Stucki, Martin
   3. Morscher, Raphael J
   4. Suormala, Terttu
   5. Bürer, Celine
   6. Burda, Patricie
   7. Christensen, Ernst

   2012 - Forschungsinformationssystem des UKE - frei zugänglich
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. Diagnosis and management of glutaric aciduria type I--revised recommendations.

    1. Kölker, Stefan
    2. Christensen, Ernst
    3. Leonard, James V
    4. Greenberg, Cheryl R
    5. Boneh, Avihu
    6. Burlina, Alberto B
    7. Burlina, Alessandro P

    2011 - Forschungsinformationssystem des UKE
11. Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1

    1. Keyser, Britta
    2. Glatzel, Markus
    3. Stellmer, Franziska
    4. Kortmann, Bastian
    5. Lukacs, Zoltan
    6. Kölker, Stefan
    7. Sauer, Sven W

    2008 - Forschungsinformationssystem des UKE
12. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.

    1. Kölker, Stefan
    2. Garbade, Sven F
    3. Boy, Nikolas
    4. Maier, Esther M
    5. Meissner, Thomas
    6. Mühlhausen, Chris
    7. Hennermann, Julia B

    2007 - Forschungsinformationssystem des UKE