Works matching IS 08830738 AND DT 2021 AND VI 36 AND IP 13/14

Results: 10

Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1200, doi. 10.1177/0883073821993000

By:

Lee, Henry Hing Cheong;
Pearl, Phillip L.;
Rotenberg, Alexander

Publication type:

Article

Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1162, doi. 10.1177/0883073821991295

By:

Afacan, Onur;
Yang, Edward;
Lin, Alexander P.;
Coello, Eduardo;
DiBacco, Melissa L.;
Pearl, Phillip L.;
Warfield, Simon K.;
Consortium, SSADH Deficiency Investigators

Publication type:

Article

Proceedings of the International SSADH Deficiency 2020 Conference.

Published in:

2021

By:

Pearl, Phillip L.;
DiBacco, Melissa L.;
Roullet, Jean-Baptiste;
Gibson, K. Michael

Publication type:

Editorial

Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1223, doi. 10.1177/08830738211028388

By:

Bose, Mousumi;
Roullet, Jean-Baptiste;
Gibson, K. Michael;
Rizzo, William B.;
Mansur, Hana M.;
McConnell, Alice;
Hoffman, Carolyn A.;
DiBacco, Melissa L.;
Pearl, Phillip L.

Publication type:

Article

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1218, doi. 10.1177/08830738211018902

By:

Martin, Kirt;
McConnell, Alice;
Elsea, Sarah H.

Publication type:

Article

A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1189, doi. 10.1177/08830738211012804

By:

Schreiber, John M.;
Wiggs, Edythe;
Cuento, Rose;
Norato, Gina;
Dustin, Irene H.;
Rolinski, Rachel;
Austermuehle, Alison;
Zhou, Xiangping;
Inati, Sara K.;
Gibson, K. Michael;
Pearl, Phillip L.;
Theodore, William H.

Publication type:

Article

Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1169, doi. 10.1177/08830738211008735

By:

Tsuboyama, Melissa;
Liu, Jingjing;
Kaye, Harper;
DiBacco, Melissa;
Pearl, Phillip L;
Rotenberg, Alexander

Publication type:

Article

Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre–Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1210, doi. 10.1177/08830738211001210

By:

Ahmadi, Zohreh Ziatabar;
DiBacco, Melissa L.;
Pearl, Phillip L.

Publication type:

Article

Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1177, doi. 10.1177/0883073820987742

By:

Walters, Dana C.;
Lawrence, Regan;
Kirby, Trevor;
Ahrendsen, Jared T.;
Anderson, Matthew P.;
Roullet, Jean-Baptiste;
Murphy, Eric J.;
Gibson, K. Michael

Publication type:

Article

Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 13/14, p. 1153, doi. 10.1177/0883073820981262

By:

Pearl, Phillip L.;
DiBacco, Melissa L.;
Papadelis, Christos;
Opladen, Thomas;
Hanson, Ellen;
Roullet, Jean-Baptiste;
Gibson, K. Michael

Publication type:

Article