Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1750-1172
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? ; volume:13 ; number:1 ; day:19 ; month:7 ; year:2018 ; pages:1-10 ; date:12.2018
Orphanet journal of rare diseases ; 13, Heft 1 (19.7.2018), 1-10, 12.2018

Creator
Repp, Birgit M.
Contributor
Mastantuono, Elisa
Alston, Charlotte L.
Schiff, Manuel
Haack, Tobias
Rötig, Agnes
Ardissone, Anna
Lombès, Anne
Catarino, Claudia B.
Diodato, Daria
Schottmann, Gudrun
Poulton, Joanna
Burlina, Alberto
Jonckheere, An
Munnich, Arnold
Rolinski, Boris
Ghezzi, Daniele
Rokicki, Dariusz
Wellesley, Diana
Martinelli, Diego
Wenhong, Ding
Lamantea, Eleonora
Ostergaard, Elsebet
Pronicka, Ewa
Pierre, Germaine
Smeets, Hubert J. M.
Wittig, Ilka
Scurr, Ingrid
de Coo, Irenaeus F. M.
Moroni, Isabella
Smet, Joél
Mayr, Johannes A.
Dai, Lifang
de Meirleir, Linda
Schuelke, Markus
Zeviani, Massimo
Morscher, Raphael J.
McFarland, Robert
Seneca, Sara
Klopstock, Thomas
Meitinger, Thomas
Wieland, Thomas
Strom, Tim M.
Herberg, Ulrike
Ahting, Uwe
Sperl, Wolfgang
Nassogne, Marie-Cecile
Ling, Han
Fang, Fang
Freisinger, Peter
Van Coster, Rudy
Strecker, Valentina
Taylor, Robert W.
Häberle, Johannes
Vockley, Jerry
Prokisch, Holger
Wortmann, Saskia
SpringerLink (Online service)

DOI
10.1186/s13023-018-0784-8
URN
urn:nbn:de:101:1-2018092422091378453529
Rights
Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:34 AM CEST

Data provider

This object is provided by:
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Associated

  • Repp, Birgit M.
  • Mastantuono, Elisa
  • Alston, Charlotte L.
  • Schiff, Manuel
  • Haack, Tobias
  • Rötig, Agnes
  • Ardissone, Anna
  • Lombès, Anne
  • Catarino, Claudia B.
  • Diodato, Daria
  • Schottmann, Gudrun
  • Poulton, Joanna
  • Burlina, Alberto
  • Jonckheere, An
  • Munnich, Arnold
  • Rolinski, Boris
  • Ghezzi, Daniele
  • Rokicki, Dariusz
  • Wellesley, Diana
  • Martinelli, Diego
  • Wenhong, Ding
  • Lamantea, Eleonora
  • Ostergaard, Elsebet
  • Pronicka, Ewa
  • Pierre, Germaine
  • Smeets, Hubert J. M.
  • Wittig, Ilka
  • Scurr, Ingrid
  • de Coo, Irenaeus F. M.
  • Moroni, Isabella
  • Smet, Joél
  • Mayr, Johannes A.
  • Dai, Lifang
  • de Meirleir, Linda
  • Schuelke, Markus
  • Zeviani, Massimo
  • Morscher, Raphael J.
  • McFarland, Robert
  • Seneca, Sara
  • Klopstock, Thomas
  • Meitinger, Thomas
  • Wieland, Thomas
  • Strom, Tim M.
  • Herberg, Ulrike
  • Ahting, Uwe
  • Sperl, Wolfgang
  • Nassogne, Marie-Cecile
  • Ling, Han
  • Fang, Fang
  • Freisinger, Peter
  • Van Coster, Rudy
  • Strecker, Valentina
  • Taylor, Robert W.
  • Häberle, Johannes
  • Vockley, Jerry
  • Prokisch, Holger
  • Wortmann, Saskia
  • SpringerLink (Online service)

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