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Propionic acidemia
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Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study
by Kovacevic, Alexander (Author)
, Garbade, Sven (Author)
, Hörster, Friederike (Author)
, Hoffmann, Georg F. (Author)
, Gorenflo, Matthias (Author)
, Mereles, Derliz (Author)
, Kölker, Stefan (Author)
, Staufner, Christian (Author)
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Molecular genetics and metabolism, 137 (2022), 4, Seite 349-358
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Cardiac phenotype in propionic acidemia: results of an observational monocentric study
by Kovacevic, Alexander (Author)
, Garbade, Sven (Author)
, Hoffmann, Georg F. (Author)
, Gorenflo, Matthias (Author)
, Kölker, Stefan (Author)
, Staufner, Christian (Author)
,
in:
Molecular genetics and metabolism, 130 (2020), 1, Seite 41-48
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Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias
by Al Dhahouri, Nahid (Author)
, Langhans, Claus-Dieter (Author)
, Al Hammadi, Zalikha (Author)
, Okun, Jürgen G. (Author)
, Hoffmann, Georg F. (Author)
, Al-Jasmi, Fatma (Author)
, Al-Dirbashi, Osama Y. (Author)
,
in:
Clinica chimica acta, 487 (2018), Seite 41-45
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Klinikum der Universität Heidelberg
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Zentrum für Kinder- und Jugendmedizin
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Zentrum für Innere Medizin (Krehl Klinik)
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Hoffmann, Georg F.
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Garbade, Sven
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Gorenflo, Matthias
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Kovacevic, Alexander
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Kölker, Stefan
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Staufner, Christian
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Al Dhahouri, Nahid
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Al Hammadi, Zalikha
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Al-Dirbashi, Osama Y.
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Al-Jasmi, Fatma
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Hörster, Friederike
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Langhans, Claus-Dieter
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Mereles, Derliz
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Okun, Jürgen G.
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Propionic acidemia
Acquired long QT syndrome
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Cardiomyopathy
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Dried urine spot
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Left ventricular diastolic dysfunction
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Left ventricular dysfunction
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Left ventricular global longitudinal strain
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Liquid chromatography tandem mass spectrometry
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Liver transplantation
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Methylcitrate
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Methylmalonic acidemia
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arrhythmias
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cardiomyopathy
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children
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diastolic function
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heart-failure
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intervals
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liver-transplantation
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long qt syndrome
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pa
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secondary mitochondrial dysfunction
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spironolactone
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