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

Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, 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; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; 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.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2019-08-29T12:55:41Z
dc.date.available	2019-08-29T12:55:41Z
dc.date.issued	2018
dc.identifier.issn	1750-1172
dc.identifier.uri	http://hdl.handle.net/10900/92160
dc.language.iso	en	de_DE
dc.publisher	Bmc	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s13023-018-0784-8	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190321153956_01842
utue.personen.roh	Repp, Birgit M.
utue.personen.roh	Mastantuono, Elisa
utue.personen.roh	Alston, Charlotte L.
utue.personen.roh	Schiff, Manuel
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Rotig, Agnes
utue.personen.roh	Ardissone, Anna
utue.personen.roh	Lombes, Anne
utue.personen.roh	Catarino, Claudia B.
utue.personen.roh	Diodato, Daria
utue.personen.roh	Schottmann, Gudrun
utue.personen.roh	Poulton, Joanna
utue.personen.roh	Burlina, Alberto
utue.personen.roh	Jonckheere, An
utue.personen.roh	Munnich, Arnold
utue.personen.roh	Rolinski, Boris
utue.personen.roh	Ghezzi, Daniele
utue.personen.roh	Rokicki, Dariusz
utue.personen.roh	Wellesley, Diana
utue.personen.roh	Martinelli, Diego
utue.personen.roh	Ding Wenhong
utue.personen.roh	Lamantea, Eleonora
utue.personen.roh	Ostergaard, Elsebet
utue.personen.roh	Pronicka, Ewa
utue.personen.roh	Pierre, Germaine
utue.personen.roh	Smeets, Hubert J. M.
utue.personen.roh	Wittig, Ilka
utue.personen.roh	Scurr, Ingrid
utue.personen.roh	de Coo, Irenaeus F. M.
utue.personen.roh	Moroni, Isabella
utue.personen.roh	Smet, Joel
utue.personen.roh	Mayr, Johannes A.
utue.personen.roh	Dai, Lifang
utue.personen.roh	de Meirleir, Linda
utue.personen.roh	Schuelke, Markus
utue.personen.roh	Zeviani, Massimo
utue.personen.roh	Morscher, Raphael J.
utue.personen.roh	McFarland, Robert
utue.personen.roh	Seneca, Sara
utue.personen.roh	Klopstock, Thomas
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Wieland, Thomas
utue.personen.roh	Strom, Tim M.
utue.personen.roh	Herberg, Ulrike
utue.personen.roh	Ahting, Uwe
utue.personen.roh	Sperl, Wolfgang
utue.personen.roh	Nassogne, Marie-Cecile
utue.personen.roh	Ling, Han
utue.personen.roh	Fang Fang
utue.personen.roh	Freisinger, Peter
utue.personen.roh	Van Coster, Rudy
utue.personen.roh	Strecker, Valentina
utue.personen.roh	Taylor, Robert W.
utue.personen.roh	Haeberle, Johannes
utue.personen.roh	Vockley, Jerry
utue.personen.roh	Prokisch, Holger
utue.personen.roh	Wortmann, Saskia
dcterms.isPartOf.ZSTitelID	Orphanet Journal of Rare Diseases	de_DE
dcterms.isPartOf.ZS-Issue	Article 120	de_DE
dcterms.isPartOf.ZS-Volume	13	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE