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Methylmalonic aciduria
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Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up
by Schumann, Anke (Author)
, Kölker, Stefan (Author)
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Molecular genetics and metabolism, 110 (2013), 4, Seite 472-476
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Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: a new genetic disease?
by Mayatepek, Ertan (Author)
, Hoffmann, Georg F. (Author)
, Baumgartner, R. (Author)
, Schulze, Andreas (Author)
, Jakobs, C. (Author)
, Trefz, Friedrich K. (Author)
, Bremer, Hans J. (Author)
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European journal of pediatrics, 155 (1996), 5, Seite 398-403
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Medizinische Fakultät Heidelberg
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Klinikum der Universität Heidelberg
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Zentrum für Kinder- und Jugendmedizin
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Baumgartner, R.
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Bremer, Hans J.
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Hoffmann, Georg F.
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Jakobs, C.
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Kölker, Stefan
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Mayatepek, Ertan
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Schulze, Andreas
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Schumann, Anke
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Trefz, Friedrich K.
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Methylmalonic aciduria
Cerebrospinal fluid
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Chronic kidney disease
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Encephalomyelopathy
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GABA
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Kidney biopsy
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Vitamin B responsiveness
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Vitamin B12
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