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  2. Details for: CAD mutations and uridine-responsive epileptic encephalopathy.
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CAD mutations and uridine-responsive epileptic encephalopathy. [electronic resource]

By:
  • Koch, Johannes
Contributor(s):
  • Mayr, Johannes A
  • Alhaddad, Bader
  • Rauscher, Christian
  • Bierau, Jörgen
  • Kovacs-Nagy, Reka
  • Coene, Karlien L M
  • Bader, Ingrid
  • Holzhacker, Monika
  • Prokisch, Holger
  • Venselaar, Hanka
  • Wevers, Ron A
  • Distelmaier, Felix
  • Polster, Tilman
  • Leiz, Steffen
  • Betzler, Cornelia
  • Strom, Tim M
  • Sperl, Wolfgang
  • Meitinger, Thomas
  • Wortmann, Saskia B
  • Haack, Tobias B
Producer: 20170512Description: 279-286 p. digitalISSN:
  • 1460-2156
Subject(s):
  • Anemia -- complications
  • Aspartate Carbamoyltransferase -- genetics
  • Brain -- diagnostic imaging
  • Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) -- genetics
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Developmental Disabilities -- complications
  • Dihydroorotase -- genetics
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Mutation -- genetics
  • Spasms, Infantile -- complications
  • Uridine -- therapeutic use
Online resources:
  • Available from publisher's website
In: Brain : a journal of neurology vol. 140
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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CAD mutations and uridine-responsive epileptic encephalopathy.

APA

Koch J., Mayr J. A., Alhaddad B., Rauscher C., Bierau J., Kovacs-Nagy R., Coene K. L. M., Bader I., Holzhacker M., Prokisch H., Venselaar H., Wevers R. A., Distelmaier F., Polster T., Leiz S., Betzler C., Strom T. M., Sperl W., Meitinger T., Wortmann S. B. & Haack T. B. (20170512). CAD mutations and uridine-responsive epileptic encephalopathy. : Brain : a journal of neurology.

Chicago

Koch Johannes, Mayr Johannes A, Alhaddad Bader, Rauscher Christian, Bierau Jörgen, Kovacs-Nagy Reka, Coene Karlien L M, Bader Ingrid, Holzhacker Monika, Prokisch Holger, Venselaar Hanka, Wevers Ron A, Distelmaier Felix, Polster Tilman, Leiz Steffen, Betzler Cornelia, Strom Tim M, Sperl Wolfgang, Meitinger Thomas, Wortmann Saskia B and Haack Tobias B. 20170512. CAD mutations and uridine-responsive epileptic encephalopathy. : Brain : a journal of neurology.

Harvard

Koch J., Mayr J. A., Alhaddad B., Rauscher C., Bierau J., Kovacs-Nagy R., Coene K. L. M., Bader I., Holzhacker M., Prokisch H., Venselaar H., Wevers R. A., Distelmaier F., Polster T., Leiz S., Betzler C., Strom T. M., Sperl W., Meitinger T., Wortmann S. B. and Haack T. B. (20170512). CAD mutations and uridine-responsive epileptic encephalopathy. : Brain : a journal of neurology.

MLA

Koch Johannes, Mayr Johannes A, Alhaddad Bader, Rauscher Christian, Bierau Jörgen, Kovacs-Nagy Reka, Coene Karlien L M, Bader Ingrid, Holzhacker Monika, Prokisch Holger, Venselaar Hanka, Wevers Ron A, Distelmaier Felix, Polster Tilman, Leiz Steffen, Betzler Cornelia, Strom Tim M, Sperl Wolfgang, Meitinger Thomas, Wortmann Saskia B and Haack Tobias B. CAD mutations and uridine-responsive epileptic encephalopathy. : Brain : a journal of neurology. 20170512.

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