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(Old American Company.) A grand serious pantomine. [electronic resource] : In three parts, intermixed with dances, never performed in New-York called the Danaides. With new music, dresses and decorati...
Publisher:[New York] : Printed by J. Buel, corner of Water-Street and Fly-Market. sold at the box-office, and doors of the theatre, [1795]
Date:[1795]
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Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies
Author / Creator:Vogel, Kara R. ; Ainslie, Garrett R. ; Walters, Dana C. ; McConnell, Alice ; Dhamne, Sameer C. ; Rotenberg, Alexander ; Roullet, Jean-Baptiste ; Gibson, K. Michael
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.699-708
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Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes
Author / Creator:Kirby, Trevor ; Walters, Dana C. ; Brown, Madalyn ; Jansen, Erwin ; Salomons, Gajja S. ; Turgeon, Coleman ; Rinaldo, Piero ; Arning, Erland ; Ashcraft, Paula ; Bottiglieri, Teodoro ; Roullet, Jean-Baptiste ; Gibson, K. Michael
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2020-04, Vol.35 (4), p.601-614
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Age‐related phenotype and biomarker changes in SSADH deficiency
Author / Creator:DiBacco, Melissa L. ; Roullet, Jean‐Baptiste ; Kapur, Kush ; Brown, Madalyn N. ; Walters, Dana C. ; Gibson, K. Michael ; Pearl, Phillip L.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-01, Vol.6 (1), p.114-120
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Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
Author / Creator:Kirby, Trevor ; Walters, Dana C. ; Shi, Xutong ; Turgeon, Coleman ; Rinaldo, Piero ; Arning, Erland ; Ashcraft, Paula ; Bottiglieri, Teodoro ; DiBacco, Melissa ; Pearl, Phillip L. ; Roullet, Jean-Baptiste ; Gibson, K. Michael
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.261-9, Article 261
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Author / Creator:Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Afshar-Saber, Wardiya ; Lee, Henry H. C. ; Bertoldi, Mariarita ; McGinty, Gabrielle E. ; DiBacco, Melissa L. ; Arning, Erland ; Tsuboyama, Melissa ; Rotenberg, Alexander ; Opladen, Thomas ; Jeltsch, Kathrin ; García-Cazorla, Àngels ; Juliá-Palacios, Natalia ; Gibson, K. Michael ; Sahin, Mustafa ; Pearl, Phillip L.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.21-15, Article 21
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In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells
Author / Creator:Vogel, Kara R. ; Ainslie, Garrett R. ; Jansen, Erwin E. ; Salomons, Gajja S. ; Roullet, Jean-Baptiste ; Gibson, K. Michael
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-10, Vol.12 (10), p.e0186919-e0186919
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Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects
Author / Creator:Walters, Dana C. ; Jansen, Erwin E. W. ; Ainslie, Garrett R. ; Salomons, Gajja S. ; Brown, Madalyn N. ; Schmidt, Michelle A. ; Roullet, Jean‐Baptiste ; Gibson, K. M.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Pharmacology research & perspectives, 2019-02, Vol.7 (1), p.e00456-n/a
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Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency
Author / Creator:Brown, Madalyn ; Turgeon, Coleman ; Rinaldo, Piero ; Pop, Ana ; Salomons, Gajja S. ; Roullet, Jean‐Baptiste ; Gibson, K. Michael
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-05, Vol.53 (1), p.29-38
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Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female
Author / Creator:Brown, Madalyn ; Ashcraft, Paula ; Arning, Erland ; Bottiglieri, Teodoro ; McClintock, William ; Giancola, Frank ; Lieberman, David ; Hauser, Natalie S. ; Miller, Rebecca ; Roullet, Jean‐Baptiste ; Pearl, Phillip ; Gibson, K. Michael
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e629-n/a
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Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice
Author / Creator:Brown, Madalyn N. ; Gibson, K. Michael ; Schmidt, Michelle A. ; Walters, Dana C. ; Arning, Erland ; Bottiglieri, Teodoro ; Roullet, Jean‐Baptiste
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-11, Vol.56 (1), p.58-69
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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome
Author / Creator:Roullet, Jean-Baptiste ; Merkens, Louise S. ; Pappu, Anuradha S. ; Jacobs, Megan D. ; Winter, Rolf ; Connor, William E. ; Steiner, Robert D.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.859-869
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Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
Author / Creator:Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Cesaro, Samuele ; DiBacco, Melissa L. ; Arning, Erland ; Rotenberg, Alexander ; Lee, Henry H. C. ; Opladen, Thomas ; Jeltsch, Kathrin ; García-Cazorla, Àngels ; Juliá-Palacios, Natalia ; Gibson, K. Michael ; Bertoldi, Mariarita ; Pearl, Phillip L.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-12, Vol.142 (12), p.1755-1776
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Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes
Author / Creator:Kirby, Trevor ; Walters, Dana C. ; Brown, Madalyn ; Jansen, Erwin ; Salomons, Gajja S. ; Turgeon, Coleman ; Rinaldo, Piero ; Arning, Erland ; Ashcraft, Paula ; Bottiglieri, Teodoro ; Roullet, Jean-Baptiste ; Gibson, K. Michael
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2020-06, Vol.35 (5), p.849-850
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Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome
Author / Creator:Chan, Yen-Ming ; Merkens, Louise S ; Connor, William E ; Roullet, Jean-Baptiste ; Penfield, Jennifer A ; Jordan, Julia M ; Steiner, Robert D ; Jones, Peter J H
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2009-06, Vol.65 (6), p.681-685
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Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient mice
Author / Creator:Brown, Madalyn N ; Gibson, K Michael ; Schmidt, Michelle A ; Walters, Dana C ; Arning, Erland ; Bottiglieri, Teodoro ; Roullet, Jean-Baptiste
Journal title:JIMD reports, 2020-11, Vol.56 (1), p.58-69
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Mevalonate Availability and Cardiovascular Functions
Author / Creator:Roullet, Jean-Baptiste ; Xue, Hong ; Pappu, Anuradha S. ; Roullet, Chantal ; Holcomb, Scott ; McCarron, David A.
Publisher:Washington, DC: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1993-12, Vol.90 (24), p.11728-11732
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Recruitment and retention strategies and methods in the HEALTHY study
Author / Creator:Drews, K.L ; Harrell, J.S ; Thompson, D ; Mazzuto, S.L ; Ford, E.G ; Carter, M ; Ford, D.A ; Yin, Z ; Jessup, A.N ; Roullet, J.B
Publisher:London: Nature Publishing Group UK
Journal title:International Journal of Obesity, 2009-08, Vol.33 (Suppl 4), p.S21-S28
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(Old American Company.) A grand serious pantomine. [electronic resource] : In three parts, intermixed with dances, never performed in New-York called the Danaides. With new music, dresses and decorati...

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Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies

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Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

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Age‐related phenotype and biomarker changes in SSADH deficiency

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Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

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In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells

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Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects

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Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

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Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

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Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice

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No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome

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Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

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Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

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Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome

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Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient mice

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Mevalonate Availability and Cardiovascular Functions

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Recruitment and retention strategies and methods in the HEALTHY study

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