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Magnetic Resonance of Myelin, Myelination, and Myelin Disorders pp 231–236Cite as

Urea Cycle Defects

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Abstract

There are five well-documented urea cycle defects:

  • Carbamyl phosphate synthetase deficiency (CPSD)

  • Ornithine transcarbamylase deficiency (OTCD)

  • Argininosuccinate synthetase deficiency (ASSD), also called citrullinemia

  • Argininosuccinate lyase deficiency (ASLD), also called argininosuccinic aciduria

  • Arginase deficiency, also called hyperargininemia.

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Authors and Affiliations

  1. Department of Child Neurology, Free University Hospital, De Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands

    Marjo S. van der Knaap MD, PhD

  2. Department of Diagnostic Radiology, Free University Hospital, De Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands

    Jacob Valk MD, PhD

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  1. Marjo S. van der Knaap MD, PhD
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  2. Jacob Valk MD, PhD
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© 1995 Springer-Verlag Berlin Heidelberg

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van der Knaap, M.S., Valk, J. (1995). Urea Cycle Defects. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03078-3_39

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  • DOI: https://doi.org/10.1007/978-3-662-03078-3_39

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03080-6

  • Online ISBN: 978-3-662-03078-3

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