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NARA Subscribed3
Publisher
Springer Nature3
Journal
Human Genetics1
Metabolic Brain Disease2
Publication Year
20202
20081
Piero Rinaldo results 3 · Newest (Page 1/1, per page 25)
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Author: Piero Rinaldo ×Clear All Filters
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Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomesNARA Subscribed
Metabolic Brain Disease · 2020 · Vol. 35 · Issue 5 · Springer
Trevor Kirby; Dana C. Walters; Madalyn Brown; Erwin Jansen; Gajja S. Salomons; Coleman Turgeon; Piero Rinaldo; Erland Arning; Paula Ashcraft; Teodoro Bottiglieri; Jean-Baptiste Roullet; K. Michael Gibson
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Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomesNARA Subscribed
Metabolic Brain Disease · 2020 · Vol. 35 · Issue 4 · Springer
Trevor Kirby; Dana C. Walters; Madalyn Brown; Erwin Jansen; Gajja S. Salomons; Coleman Turgeon; Piero Rinaldo; Erland Arning; Paula Ashcraft; Teodoro Bottiglieri; Jean-Baptiste Roullet; K. Michael Gibson
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The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelNARA Subscribed
Human Genetics · 2008 · Vol. 124 · Issue 1 · Springer
Christina B. Pedersen; Steen Kølvraa; Agnete Kølvraa; Vibeke Stenbroen; Margrethe Kjeldsen; Regina Ensenauer; Ingrid Tein; Dietrich Matern; Piero Rinaldo; Christine Vianey-Saban; Antonia Ribes; Willy Lehnert; Ernst Christensen; Thomas J. Corydon; Brage S. Andresen; Søren Vang; Lars Bolund; Jerry Vockley; Peter Bross; Niels Gregersen
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