Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? [electronic resource]
By: Contributor(s):- Mastantuono, Elisa
- Alston, Charlotte L
- Schiff, Manuel
- Haack, Tobias B
- 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
- 1750-1172
- Acidosis -- genetics
- Activities of Daily Living
- Acyl-CoA Dehydrogenase -- deficiency
- Amino Acid Metabolism, Inborn Errors -- genetics
- Cardiomyopathy, Hypertrophic -- genetics
- Electron Transport Complex I -- metabolism
- Female
- Humans
- Male
- Mitochondrial Diseases -- genetics
- Muscle Weakness -- drug therapy
- Prognosis
- Riboflavin -- therapeutic use
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
APA
Repp B. M., Mastantuono E., Alston C. L., Schiff M., Haack T. B., Rötig A., Ardissone A., Lombès A., Catarino C. B., Diodato D., Schottmann G., Poulton J., Burlina A., Jonckheere A., Munnich A., Rolinski B., Ghezzi D., Rokicki D., Wellesley D., Martinelli D., Wenhong D., Lamantea E., Ostergaard E., Pronicka E., Pierre G., Smeets H. J. M., Wittig I., Scurr I., de Coo I. F. M., Moroni I., Smet J., Mayr J. A., Dai L., de Meirleir L., Schuelke M., Zeviani M., Morscher R. J., McFarland R., Seneca S., Klopstock T., Meitinger T., Wieland T., Strom T. M., Herberg U., Ahting U., Sperl W., Nassogne M., Ling H., Fang F., Freisinger P., Van Coster R., Strecker V., Taylor R. W., Häberle J., Vockley J., Prokisch H. & Wortmann S. (20190318). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?. : Orphanet journal of rare diseases.
Chicago
Repp Birgit M, Mastantuono Elisa, Alston Charlotte L, Schiff Manuel, Haack Tobias B, 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 and Wortmann Saskia. 20190318. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?. : Orphanet journal of rare diseases.
Harvard
Repp B. M., Mastantuono E., Alston C. L., Schiff M., Haack T. B., Rötig A., Ardissone A., Lombès A., Catarino C. B., Diodato D., Schottmann G., Poulton J., Burlina A., Jonckheere A., Munnich A., Rolinski B., Ghezzi D., Rokicki D., Wellesley D., Martinelli D., Wenhong D., Lamantea E., Ostergaard E., Pronicka E., Pierre G., Smeets H. J. M., Wittig I., Scurr I., de Coo I. F. M., Moroni I., Smet J., Mayr J. A., Dai L., de Meirleir L., Schuelke M., Zeviani M., Morscher R. J., McFarland R., Seneca S., Klopstock T., Meitinger T., Wieland T., Strom T. M., Herberg U., Ahting U., Sperl W., Nassogne M., Ling H., Fang F., Freisinger P., Van Coster R., Strecker V., Taylor R. W., Häberle J., Vockley J., Prokisch H. and Wortmann S. (20190318). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?. : Orphanet journal of rare diseases.
MLA
Repp Birgit M, Mastantuono Elisa, Alston Charlotte L, Schiff Manuel, Haack Tobias B, 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 and Wortmann Saskia. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?. : Orphanet journal of rare diseases. 20190318.