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Heckmann,\ K.*\ ; Iuso,\ A.\ ; Reunert,\ J.*\ ; Grueneberg,\ M.*\ ; Seelhoefer,\ A.*\ ; Rust,\ S.*\ ; Fiermonte,\ G.*\ ; Paradies,\ E.*\ ; Piazzolla,\ C.*\ ; Mannil,\ M.*\ ; Marquardt,\ T.*
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Correction to “Expanding the genetic and clinicalspectrum of SLC25A42 associated disorders and testing ofpantothenic acid to improve CoA level in vitro”.
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JIMD Rep. 66:e70002 (2025)
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Heckmann,\ K.*\ ; Iuso,\ A.\ ; Reunert,\ J.*\ ; Grüneberg,\ M.*\ ; Seelhöfer,\ A.*\ ; Rust,\ S.*\ ; Fiermonte,\ G.*\ ; Paradies,\ E.*\ ; Piazzolla,\ C.*\ ; Mannil,\ M.*\ ; Marquardt,\ T.*
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Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.
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JIMD Rep. 65, 417-425 (2024)
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Della Marina,\ A.*\ ; Leiendecker,\ B.*\ ; Roesch,\ S.*\ ; Wortmann,\ S.B.
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Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome).
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JIMD Rep. 53, 10-11 (2020)
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Iuso,\ A.\ ; Alhaddad,\ B.*\ ; Weigel,\ C.*\ ; Kotzaeridou,\ U.*\ ; Mastantuono,\ E.\ ; Schwarzmayr,\ T.\ ; Graf,\ E.\ ; Terrile,\ C.\ ; Prokisch,\ H.\ ; Strom,\ T.M.\ ; Hoffmann,\ G.F.*\ ; Meitinger,\ T.\ ; Haack,\ T.B.*
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A homozygous splice site mutation in \SLC25A42\, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy.
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JIMD Rep. 44, 1–7 (2018)
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Thiels,\ C.*\ ; Fleger,\ M.*\ ; Huemer,\ M.-T.*\ ; Rodenburg,\ R.J.*\ ; Vaz,\ F.M.*\ ; Houtkooper,\ R.H.*\ ; Haack,\ T.B.\ ; Prokisch,\ H.\ ; Feichtinger,\ R.G.*\ ; Lücke,\ T.*\ ; Mayr,\ J.A.*\ ; Wortmann,\ S.B.*
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Atypical clinical presentations of TAZ mutations: An underdiagnosed cause of growth retardation?
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JIMD Rep., 89-93 (2016)
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Diodato,\ D.*\ ; Invernizzi,\ F.*\ ; Lamantea,\ E.*\ ; Fagiolari,\ G.*\ ; Parini,\ R.*\ ; Menni,\ F.*\ ; Parenti,\ G.*\ ; Bollani,\ L.*\ ; Pasquini,\ E.*\ ; Donati,\ M.A.*\ ; Cassandrini,\ D.*\ ; Santorelli,\ F.M.*\ ; Haack,\ T.B.\ ; Prokisch,\ H.\ ; Ghezzi,\ D.*\ ; Lamperti,\ C.*\ ; Zeviani,\ M.*
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Common and novel \TMEM70\ mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy.
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JIMD Rep. 15, 71-78 (2015)
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