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Medientyp
- Text 12
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Autor/in
- Kölker, Stefan
- Hoffmann, Georg F 4
- Barić, Ivo 3
- Burlina, Alberto B 3
- Garbade, Sven F 3
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12 Einträge gefunden
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Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
- Schnabel, Elena
- Kölker, Stefan
- Gleich, Florian
- Feyh, Patrik
- Hörster, Friederike
- Haas, Dorothea
- Fang-Hoffmann, Junmin
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Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics
- Reischl-Hajiabadi, Anna T
- Garbade, Sven F
- Feyh, Patrik
- Weiss, Karl Heinz
- Mütze, Ulrike
- Kölker, Stefan
- Hoffmann, Georg F
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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
- Saffari, Afshin
- Cannet, Claire
- Blaschek, Astrid
- Hahn, Andreas
- Hoffmann, Georg F
- Johannsen, Jessika
- Kirsten, Romy
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Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
- Jamiolkowski, Dagmar
- Kölker, Stefan
- Glahn, Esther M
- Barić, Ivo
- Zeman, Jiri
- Baumgartner, Matthias R
- Mühlhausen, Chris
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Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
- Kölker, Stefan
- Boy, S P Nikolas
- Heringer, Jana
- Müller, Edith
- Maier, Esther M
- Ensenauer, Regina
- Mühlhausen, Chris
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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
- Grünert, Sarah C
- Stucki, Martin
- Morscher, Raphael J
- Suormala, Terttu
- Bürer, Celine
- Burda, Patricie
- Christensen, Ernst
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Diagnosis and management of glutaric aciduria type I--revised recommendations.
- Kölker, Stefan
- Christensen, Ernst
- Leonard, James V
- Greenberg, Cheryl R
- Boneh, Avihu
- Burlina, Alberto B
- Burlina, Alessandro P
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Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
- Keyser, Britta
- Glatzel, Markus
- Stellmer, Franziska
- Kortmann, Bastian
- Lukacs, Zoltan
- Kölker, Stefan
- Sauer, Sven W
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