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Publikationer i urvalet

22 träffar

Bibliografisk träff 2019-03-26

Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase.

Peters V, Morath M, Mack M, Liesert M, Buckel W, Hoffmann GF, Vockley J, Ghisla S, Zschocke J.

JIMD Rep · research-article; journal article · DOI 10.1002/jmd2.12026

Bibliografisk träff 2019-01-18

Ammonium accumulation and chemokine decrease in culture media of Gcdh<sup>-/-</sup> 3D reaggregated brain cell cultures.

Cudré-Cung HP, Remacle N, do Vale-Pereira S, Gonzalez M, Henry H, Ivanisevic J, Schmiesing J, Mühlhausen C, Braissant O, Ballhausen D.

Mol Genet Metab · research support, non-u.s. gov't; journal article · DOI 10.1016/j.ymgme.2019.01.009

Bibliografisk träff 2018-12-20

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.

Pokora P, Jezela-Stanek A, Różdżyńska-Świątkowska A, Jurkiewicz E, Bogdańska A, Szymańska E, Rokicki D, Ciara E, Rydzanicz M, Stawiński P, Płoski R, Tylki-Szymańska A.

Metab Brain Dis · research support, non-u.s. gov't; research-article; journal article · DOI 10.1007/s11011-018-0357-5

Bibliografisk träff 2018-09-05

Quantitation of plasma and urine 3-hydroxyglutaric acid, after separation from 2-hydroxyglutaric acid and other compounds of similar ion transition, by liquid chromatography-tandem mass spectrometry for the confirmation of glutaric aciduria type 1.

Simon GA, Wierenga A.

J Chromatogr B Analyt Technol Biomed Life Sci · journal article · DOI 10.1016/j.jchromb.2018.09.007

Bibliografisk träff 2017-11-02

Impairment of astrocytic glutaminolysis in glutaric aciduria type I.

Komatsuzaki S, Ediga RD, Okun JG, Kölker S, Sauer SW.

J Inherit Metab Dis · research support, non-u.s. gov't; journal article · DOI 10.1007/s10545-017-0096-5

Bibliografisk träff 2010-10-27

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P.

J Inherit Metab Dis · validation study; journal article · DOI 10.1007/s10545-010-9223-2

Bibliografisk träff 2006-03-29

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

Sauer SW, Okun JG, Fricker G, Mahringer A, Müller I, Crnic LR, Mühlhausen C, Hoffmann GF, Hörster F, Goodman SI, Harding CO, Koeller DM, Kölker S.

J Neurochem · comparative study; research support, non-u.s. gov't; journal article · DOI 10.1111/j.1471-4159.2006.03813.x

Bibliografisk träff 2006-02-01

Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.

Mühlhausen C, Ott N, Chalajour F, Tilki D, Freudenberg F, Shahhossini M, Thiem J, Ullrich K, Braulke T, Ergün S.

Pediatr Res · research support, non-u.s. gov't; journal article · DOI 10.1203/01.pdr.0000197313.44265.cb

Bibliografisk träff 2005-12-05

Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.

Fu Z, Runquist JA, Forouhar F, Hussain M, Hunt JF, Miziorko HM, Kim JJ.

J Biol Chem · research support, u.s. gov't, non-p.h.s.; journal article; research support, n.i.h., extramural · DOI 10.1074/jbc.m506880200

Bibliografisk träff 2005-04-18

Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening.

Shigematsu Y, Hata I, Tanaka Y, Tajima G, Sakura N, Naito E, Yorifuji T.

J Chromatogr B Analyt Technol Biomed Life Sci · research support, non-u.s. gov't; journal article · DOI 10.1016/j.jchromb.2005.03.031

Bibliografisk träff 2005-01-01

Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum.

Latini A, Scussiato K, Leipnitz G, Dutra-Filho CS, Wajner M.

J Inherit Metab Dis · research support, non-u.s. gov't; journal article · DOI 10.1007/s10545-005-3677-7

Bibliografisk träff 2005-01-01

3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats.

Latini A, Rodriguez M, Borba Rosa R, Scussiato K, Leipnitz G, Reis de Assis D, da Costa Ferreira G, Funchal C, Jacques-Silva MC, Buzin L, Giugliani R, Cassina A, Radi R, Wajner M.

Neuroscience · research support, non-u.s. gov't; journal article · DOI 10.1016/j.neuroscience.2005.05.013

Bibliografisk träff 2004-08-01

3-Hydroxyglutaric acid fails to affect the viability of primary neuronal rat cells.

Freudenberg F, Lukacs Z, Ullrich K.

Neurobiol Dis · journal article · DOI 10.1016/j.nbd.2004.05.001

Bibliografisk träff 2004-01-01

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.

Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O.

Diabetes · research support, non-u.s. gov't; journal article; case reports · DOI 10.2337/diabetes.53.1.221

Bibliografisk träff 2004-01-01

Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency.

Wajner M, Kölker S, Souza DO, Hoffmann GF, de Mello CF.

J Inherit Metab Dis · review; journal article · DOI 10.1023/b:boli.0000045765.37043.fb

Bibliografisk träff 2003-06-01

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

Kölker S, Hoffmann GF, Schor DS, Feyh P, Wagner L, Jeffrey I, Pourfarzam M, Okun JG, Zschocke J, Baric I, Bain MD, Jakobs C, Chalmers RA.

Neuropediatrics · journal article; case reports · DOI 10.1055/s-2003-43261

Bibliografisk träff 2001-11-01

IGF-1 and bFGF reduce glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures.

Bjugstad KB, Zawada WM, Goodman S, Freed CR.

J Inherit Metab Dis · research support, u.s. gov't, p.h.s.; research support, non-u.s. gov't; journal article · DOI 10.1023/a:1012706908779

Bibliografisk träff 2001-10-01

Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats.

de Mello CF, Kölker S, Ahlemeyer B, de Souza FR, Fighera MR, Mayatepek E, Krieglstein J, Hoffmann GF, Wajner M.

Brain Res · research support, non-u.s. gov't; journal article · DOI 10.1016/s0006-8993(01)02865-7

Bibliografisk träff 1999-12-01

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.

Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF.

J Inherit Metab Dis · clinical trial; research support, non-u.s. gov't; journal article · DOI 10.1023/a:1005683222187

Bibliografisk träff 1999-03-01

Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.

Nyhan WL, Zschocke J, Hoffmann G, Stein DE, Bao L, Goodman S.

Mol Genet Metab · research support, u.s. gov't, p.h.s.; research support, non-u.s. gov't; journal article · DOI 10.1006/mgme.1998.2794

Bibliografisk träff 1997-07-01

Nerve cell lesions caused by 3-hydroxyglutaric acid: a possible mechanism for neurodegeneration in glutaric acidaemia I.

Flott-Rahmel B, Falter C, Schluff P, Fingerhut R, Christensen E, Jakobs C, Musshoff U, Fautek JD, Deufel T, Ludolph A, Ullrich K.

J Inherit Metab Dis · research support, non-u.s. gov't; journal article · DOI 10.1023/a:1005342331229

Bibliografisk träff 1991-01-01

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds.

Haworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman SI, Greenberg CR, Mallory CJ, McClarty BM, Seshia SS.

J Pediatr · research support, non-u.s. gov't; journal article; case reports · DOI 10.1016/s0022-3476(05)81843-8