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Johannes Spenger
Johannes Spenger
Boston Children's Hospital
Medicine
Cyclase
Genetics
Galactosemia
Microcytic anemia
3
Papers
12
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0
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Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
2020
Tomaž Rozmarič
Goran Mitulovic
Vassiliki Konstantopoulou
Bernadette Goeschl
Martina Huemer
B. Plecko
Johannes Spenger
Saskia B. Wortmann
Sabine Scholl-Bürgi
Daniela Karall
Susanne Greber-Platzer
Maximilian Zeyda
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Citations (2)
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders.
2020
Orphanet Journal of Rare Diseases
Thomas Zöggeler
Katharina Stock
Monika Jörg-Streller
Johannes Spenger
Vassiliki Konstantopoulou
Miriam Hufgard-Leitner
Sabine Scholl-Bürgi
Daniela Karall
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Citations (3)
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
2020
American Journal of Human Genetics
Saskia B. Wortmann
Brigitte Meunier
Lamia Mestek Boukhibar
Florence van den Broek
Elaina M. Maldonado
Emma Clement
Daniel Weghuber
Johannes Spenger
Zdeněk Jaroš
Fatma Taha
Wyatt W. Yue
Simon Heales
James E. Davison
Johannes Mayr
Shamima Rahman
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Citations (7)
1