JIMD Reports, case and research reports, 2012/5

ανά Zschocke, Johannes, Gibson, K. Michael
Έκδοση 2013

Physical dependence on gamma-hydroxybutrate (GHB) prodrug 1,4-butanediol (1,4-BD): Time course and severity of withdrawal in baboons

ανά Goodwin, Amy K., Gibson, K. Michael, Weerts, Elise M.
Έκδοση 2013

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

ανά Knerr, Ina, Weinhold, Natalie, Vockley, Jerry, Gibson, K. Michael
Έκδοση 2011

mTOR Inhibitors Rescue Premature Lethality and Attenuate Dysregulation of GABAergic/Glutamatergic Transcription in Murine Succinate Semialdehyde Dehydrogenase Deficiency (SSADHD),...

ανά Vogel, Kara R., Ainslie, Garrett R., Gibson, K. Michael
Τόπος έκδοσης J Inherit Metab Dis (2016)

A pharmacokinetic evaluation and metabolite identification of the GHB receptor antagonist NCS‐382 in mouse informs novel therapeutic strategies for the treatment of GHB intoxicatio...

ανά Ainslie, Garrett R., Gibson, K. Michael, Vogel, Kara R.
Τόπος έκδοσης Pharmacol Res Perspect (2016)

Neuropsychiatric Morbidity in Adolescent and Adult Succinic Semialdehyde Dehydrogenase Deficiency Patients

ανά Knerr, Ina, Gibson, K. Michael, Jakobs, Cornelis, Pearl, Phillip L.
Έκδοση 2008

JIMD Reports, case and research reports, 2012/4

ανά Zschocke, Johannes, Gibson, K. Michael, Society for the Study of Inborn Errors of Metabolism
Έκδοση c201

Plasticity of postsynaptic, but not presynaptic, GABA(B) receptors in SSADH deficient mice

ανά Vardya, Irina, Drasbek, Kim R., Gibson, K. Michael, Jensen, Kimmo
Έκδοση 2010

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

ανά Parviz, Mahsa, Vogel, Kara, Gibson, K. Michael, Pearl, Phillip L.
Τόπος έκδοσης J Pediatr Epilepsy (2014)

Aberrant GABA(A) Receptor-Mediated Inhibition in Cortico-Thalamic Networks of Succinic Semialdehyde Dehydrogenase Deficient Mice

ανά Errington, Adam C., Gibson, K. Michael, Crunelli, Vincenzo, Cope, David W.
Έκδοση 2011

Jimd reports volume 10 /

ανά Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva, Peters, Verena
Έκδοση c201

Jimd reports case and research reports, 2012/6 /

ανά Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva, Peters, Verena
Έκδοση c201

Jimd reports volume 11 /

ανά Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva, Peters, Verena
Έκδοση c201

‘Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up’

ανά Crutchfield, Susan R, Haas, Richard H, Nyhan, William L, Gibson, K Michael
Έκδοση 2008

Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS)

ανά Hager, Elizabeth J., Piganelli, Jon D., Tse, Hubert M., Gibson, K. Michael
Έκδοση 2011

Quantitation of Gamma-Hydroxybutyric Acid in Dried Blood Spots: Feasibility Assessment for Newborn Screening of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

ανά Forni, Sabrina, Pearl, Phillip L., Gibson, K. Michael, Yu, Yuezhou, Sweetman, Lawrence
Έκδοση 2013

Heritable Disorders in the Metabolism of the Dolichols: A Bridge From Sterol Biosynthesis to Molecular Glycosylation

ανά WOLFE, LYNNE A., MORAVA, EVA, HE, MIAO, VOCKLEY, JERRY, GIBSON, K. MICHAEL
Έκδοση 2012

Therapeutic Hepatocyte Transplant for Inherited Metabolic Disorders: Functional Considerations, Recent Outcomes and Future Prospects

ανά Vogel, Kara R., Kennedy, Andrew A., Whitehouse, Luke A., Gibson, K. Michael
Έκδοση 2013

Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency

ανά Malaspina, Patrizia, Picklo, Matthew J, Jakobs, C, Snead, O Carter, Gibson, K Michael
Έκδοση 2009

NON-PHYSIOLOGICAL AMINO ACID (NPAA) THERAPY TARGETING BRAIN PHENYLALANINE REDUCTION: PILOT STUDIES IN PAH(ENU2) MICE

ανά Vogel, Kara R., Arning, Erland, Wasek, Brandi L., Bottiglieri, Teodoro, Gibson, K. Michael
Έκδοση 2012