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1 . Academic Journal
Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
저자
by
Tolomeo, Maria
;
Chimienti, Guglielmina
;
Lanza, Martina
;
Barbaro, Roberto
;
Nisco, Alessia
, et al.
소스
Free Radical Research
. Jul/Aug2022, Vol. 56 Issue 7/8, p511-525. 15p. 2 Color Photographs, 3 Diagrams, 5 Graphs.
Web of Science
Scopus
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7 . Academic Journal
Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
저자
by
Fogh, Sarah
;
Dipace, Graziana
;
Bie, Anne
;
Veiga‐da‐Cunha, Maria
;
Hansen, Jakob
, et al.
소스
Journal of Inherited Metabolic Disease; Sep2021, Vol. 44 Issue 5, p1215-1225, 11p
Web of Science
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7 . Book
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
저자
by
Aksglaede, Lise
;
Christensen, Mette
;
Olesen, Jess H.
;
Duno, Morten
;
Olsen, Rikke K. J.
, et al.
소스
JIMD Reports Volume 23; 2015, p67-70, 4p
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7 . Academic Journal
The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency
저자
by
Olsen, Rikke K. J.
;
Brner, Sabrina
;
Sabaratnam, Rugivan
;
Doktor, Thomas K.
;
Andersen, Henriette S.
, et al.
소스
Human Mutation
. Jan 01, 2014 35(1):86-95
Web of Science
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7 . Academic Journal
The ETFDH c.158 A> G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl- Co A Dehydrogenation Deficiency.
저자
by
Olsen, Rikke K. J.
;
Brøner, Sabrina
;
Sabaratnam, Rugivan
;
Doktor, Thomas K.
;
Andersen, Henriette S.
, et al.
소스
Human Mutation; Jan2014, Vol. 35 Issue 1, p86-95, 10p
Web of Science
Scopus
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7 . Academic Journal
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
저자
by
Cornelius, Nanna
;
Frerman, Frank E.
;
Corydon, Thomas J.
;
Palmfeldt, Johan
;
Bross, Peter
, et al.
소스
Human Molecular Genetics
. Aug 01, 2012 21(15):3435-3448
Full Text (OUP)
Full Text (OUP Near Archive)
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7 . Academic Journal
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening
저자
by
Sykut-Cegielska, Jolanta
;
Gradowska, Wanda
;
Piekutowska-Abramczuk, Dorota
;
Andresen, Brage S.
;
Olsen, Rikke K. J.
, et al.
소스
Journal of Inherited Metabolic Disease
. Feb 01, 2011 34(1):185-195
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7 . Academic Journal
Disease mechanisms and protein structures in fatty acid oxidation defects
저자
by
Gregersen, Niels
;
Olsen, Rikke K. J.
.
소스
Journal of Inherited Metabolic Disease
. Oct 01, 2010 33(5):547-553
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4 . Academic Journal
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in Poland.
저자
by
Piekutowska‐Abramczuk, Dorota
;
Olsen, Rikke K. J.
;
Wierzba, Jolanta
;
Popowska, Ewa
;
Jurkiewicz, Dorota
, et al.
소스
Journal of Inherited Metabolic Disease; Dec2010 Supplement S3, Vol. 33, p373-377, 5p
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7 . Academic Journal
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.
저자
by
Olsen, Rikke K. J.
;
Andresen, Brage S.
;
Christensen, Ernst
;
Mandel, Hanna
;
Skovby, Flemming
, et al.
소스
Prenatal Diagnosis; Jan2005, Vol. 25 Issue 1, p60-64, 5p
Web of Science
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