Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 195

1.

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.

Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C.

Ann Clin Transl Neurol. 2019 May 24;6(6):1072-1080. doi: 10.1002/acn3.791. eCollection 2019 Jun.

2.

(Un)targeted hair metabolomics: first considerations and systematic evaluation on the impact of sample preparation.

Eisenbeiss L, Steuer AE, Binz TM, Baumgartner MR, Kraemer T.

Anal Bioanal Chem. 2019 Jul;411(17):3963-3977. doi: 10.1007/s00216-019-01873-4. Epub 2019 May 23.

PMID:
31123781
3.

Concomitant Heroin and Cocaine Use among Opioid-Dependent Patients during Methadone, Buprenorphine or Morphine Opioid Agonist Therapy.

Gastberger S, Baumgartner MR, Soyka M, Quednow BB, Hulka LM, Herdener M, Seifritz E, Mutschler J.

Eur Addict Res. 2019;25(4):207-212. doi: 10.1159/000500542. Epub 2019 May 8.

PMID:
31067528
4.

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group.

Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13.

PMID:
31018246
5.

Cocaine Hydroxy Metabolites in Hair: Indicators for Cocaine Use Versus External Contamination☆.

Scholz C, Quednow BB, Herdener M, Kraemer T, Baumgartner MR.

J Anal Toxicol. 2019 Mar 30. pii: bkz022. doi: 10.1093/jat/bkz022. [Epub ahead of print]

PMID:
30927360
6.

Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.

Kaiser N, Gautschi M, Bosanska L, Meienberg F, Baumgartner MR, Spinas GA, Hochuli M.

Mol Genet Metab. 2019 Apr;126(4):355-361. doi: 10.1016/j.ymgme.2019.02.008. Epub 2019 Feb 28.

PMID:
30846352
7.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD.

Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25.

PMID:
30827756
8.
9.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
10.

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.

Huemer M, Baumgartner MR.

J Inherit Metab Dis. 2019 Jul;42(4):686-705. doi: 10.1002/jimd.12012. Epub 2019 Feb 13.

PMID:
30761552
11.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034.

PMID:
30740731
12.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium.

J Inherit Metab Dis. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031.

PMID:
30740724
13.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD.

J Inherit Metab Dis. 2019 Feb 8. doi: 10.1002/jimd.12066. [Epub ahead of print]

PMID:
30734935
14.

Hair cortisol concentration in veal calves reared under two different welfare production labels.

Braun U, Wiest A, Lutz T, Riond B, Stirn M, Hilbe M, Baumgartner MR, Binz TM.

Res Vet Sci. 2019 Apr;123:286-292. doi: 10.1016/j.rvsc.2019.01.027. Epub 2019 Jan 28.

PMID:
30711850
15.

Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation.

Froese DS, Fowler B, Baumgartner MR.

J Inherit Metab Dis. 2019 Jul;42(4):673-685. doi: 10.1002/jimd.12009. Epub 2019 Jan 28. Review.

PMID:
30693532
16.

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Heuberger K, Bailey HJ, Burda P, Chaikuad A, Krysztofinska E, Suormala T, Bürer C, Lutz S, Fowler B, Froese DS, Yue WW, Baumgartner MR.

Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1265-1272. doi: 10.1016/j.bbadis.2019.01.021. Epub 2019 Jan 22.

17.

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.

Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P; Urea Cycle Disorders Consortium.

J Inherit Metab Dis. 2019 Mar;42(2):243-253. doi: 10.1002/jimd.12013. Epub 2019 Jan 22.

PMID:
30671983
18.

Longitudinal changes in cocaine intake and cognition are linked to cortical thickness adaptations in cocaine users.

Hirsiger S, Hänggi J, Germann J, Vonmoos M, Preller KH, Engeli EJE, Kirschner M, Reinhard C, Hulka LM, Baumgartner MR, Chakravarty MM, Seifritz E, Herdener M, Quednow BB.

Neuroimage Clin. 2019;21:101652. doi: 10.1016/j.nicl.2019.101652. Epub 2019 Jan 4.

19.

Non-medical prescription opioid users exhibit dysfunctional physiological stress responses to social rejection.

Kroll SL, Williams DP, Thoma M, Staib M, Binz TM, Baumgartner MR, Kirschbaum C, Thayer JF, Quednow BB.

Psychoneuroendocrinology. 2019 Feb;100:264-275. doi: 10.1016/j.psyneuen.2018.09.023. Epub 2018 Sep 19.

PMID:
30594739
20.

Self-regulation of the dopaminergic reward circuit in cocaine users with mental imagery and neurofeedback.

Kirschner M, Sladky R, Haugg A, Stämpfli P, Jehli E, Hodel M, Engeli E, Hösli S, Baumgartner MR, Sulzer J, Huys QJM, Seifritz E, Quednow BB, Scharnowski F, Herdener M.

EBioMedicine. 2018 Nov;37:489-498. doi: 10.1016/j.ebiom.2018.10.052. Epub 2018 Oct 28.

21.

Cognitive and neuroanatomical impairments associated with chronic exposure to levamisole-contaminated cocaine.

Vonmoos M, Hirsiger S, Preller KH, Hulka LM, Allemann D, Herdener M, Baumgartner MR, Quednow BB.

Transl Psychiatry. 2018 Oct 27;8(1):235. doi: 10.1038/s41398-018-0279-3.

22.

Cognitive and socio-cognitive functioning of chronic non-medical prescription opioid users.

Kroll SL, Nikolic E, Bieri F, Soyka M, Baumgartner MR, Quednow BB.

Psychopharmacology (Berl). 2018 Dec;235(12):3451-3464. doi: 10.1007/s00213-018-5060-z. Epub 2018 Oct 11.

PMID:
30310961
23.

Steroid profiling in nails using liquid chromatography-tandem mass spectrometry.

Voegel CD, La Marca-Ghaemmaghami P, Ehlert U, Baumgartner MR, Kraemer T, Binz TM.

Steroids. 2018 Dec;140:144-150. doi: 10.1016/j.steroids.2018.09.015. Epub 2018 Oct 5.

PMID:
30296547
24.

Cocaine adulteration with the anthelminthic tetramisole (levamisole/dexamisole): Long-term monitoring of its intake by chiral LC-MS/MS analysis of cocaine-positive hair samples.

Madry MM, Kraemer T, Baumgartner MR.

Drug Test Anal. 2019 Mar;11(3):472-478. doi: 10.1002/dta.2505. Epub 2018 Oct 17.

PMID:
30239147
25.

Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.

Hornemann T, Alecu I, Hagenbuch N, Zhakupova A, Cremonesi A, Gautschi M, Jung HH, Meienberg F, Bilz S, Christ E, Baumgartner MR, Hochuli M.

Mol Genet Metab. 2018 Sep;125(1-2):73-78. doi: 10.1016/j.ymgme.2018.07.003. Epub 2018 Jul 20.

PMID:
30037504
26.

Socio-cognitive functioning in stimulant polysubstance users.

Kroll SL, Wunderli MD, Vonmoos M, Hulka LM, Preller KH, Bosch OG, Baumgartner MR, Quednow BB.

Drug Alcohol Depend. 2018 Sep 1;190:94-103. doi: 10.1016/j.drugalcdep.2018.06.001. Epub 2018 Jun 30.

PMID:
30005311
27.

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

Froese DS, Kopec J, Rembeza E, Bezerra GA, Oberholzer AE, Suormala T, Lutz S, Chalk R, Borkowska O, Baumgartner MR, Yue WW.

Nat Commun. 2018 Jun 11;9(1):2261. doi: 10.1038/s41467-018-04735-2.

28.

Systematic investigations of endogenous cortisol and cortisone in nails by LC-MS/MS and correlation to hair.

Binz TM, Gaehler F, Voegel CD, Hofmann M, Baumgartner MR, Kraemer T.

Anal Bioanal Chem. 2018 Aug;410(20):4895-4903. doi: 10.1007/s00216-018-1131-6. Epub 2018 May 17.

PMID:
29770837
29.

Systematic optimisation of ethyl glucuronide extraction conditions from scalp hair by design of experiments and its potential effect on cut-off values appraisal.

Alladio E, Biosa G, Seganti F, Di Corcia D, Salomone A, Vincenti M, Baumgartner MR.

Drug Test Anal. 2018 Sep;10(9):1394-1403. doi: 10.1002/dta.2405. Epub 2018 Jun 19.

30.

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S.

Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30.

PMID:
29665094
31.

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S; Members of the Urea Cycle Disorders Consortium.

J Inherit Metab Dis. 2018 Jul;41(4):657-667. doi: 10.1007/s10545-017-0132-5. Epub 2018 Feb 8.

32.

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS.

Nat Commun. 2018 Feb 2;9(1):554. doi: 10.1038/s41467-018-03054-w.

33.

Endogenous cortisol in keratinized matrices: Systematic determination of baseline cortisol levels in hair and the influence of sex, age and hair color.

Binz TM, Rietschel L, Streit F, Hofmann M, Gehrke J, Herdener M, Quednow BB, Martin NG, Rietschel M, Kraemer T, Baumgartner MR.

Forensic Sci Int. 2018 Mar;284:33-38. doi: 10.1016/j.forsciint.2017.12.032. Epub 2017 Dec 24.

PMID:
29331681
34.

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4.

PMID:
29330779
35.

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS.

Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Erratum in: Nat Commun. 2018 Feb 2;9(1):554.

36.

Contact to Nature Benefits Health: Mixed Effectiveness of Different Mechanisms.

Hofmann M, Young C, Binz TM, Baumgartner MR, Bauer N.

Int J Environ Res Public Health. 2017 Dec 25;15(1). pii: E31. doi: 10.3390/ijerph15010031.

37.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):741-742. doi: 10.1007/s10545-017-0116-5.

PMID:
29234995
38.

Systematic assessment of different solvents for the extraction of drugs of abuse and pharmaceuticals from an authentic hair pool.

Madry MM, Kraemer T, Baumgartner MR.

Forensic Sci Int. 2018 Jan;282:137-143. doi: 10.1016/j.forsciint.2017.11.027. Epub 2017 Nov 23.

PMID:
29197244
39.

Hair Cortisol in Twins: Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes.

Rietschel L, Streit F, Zhu G, McAloney K, Frank J, Couvy-Duchesne B, Witt SH, Binz TM; CORtisolNETwork (CORNET) Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (PGC), McGrath J, Hickie IB, Hansell NK, Wright MJ, Gillespie NA, Forstner AJ, Schulze TG, Wüst S, Nöthen MM, Baumgartner MR, Walker BR, Crawford AA, Colodro-Conde L, Medland SE, Martin NG, Rietschel M.

Sci Rep. 2017 Nov 10;7(1):15351. doi: 10.1038/s41598-017-11852-3.

40.

Social Cognition and Interaction in Chronic Users of 3,4-Methylenedioxymethamphetamine (MDMA, "Ecstasy").

Wunderli MD, Vonmoos M, Treichler L, Zeller C, Dziobek I, Kraemer T, Baumgartner MR, Seifritz E, Quednow BB.

Int J Neuropsychopharmacol. 2018 Apr 1;21(4):333-344. doi: 10.1093/ijnp/pyx098.

41.

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.

Monostori P, Klinke G, Richter S, Baráth Á, Fingerhut R, Baumgartner MR, Kölker S, Hoffmann GF, Gramer G, Okun JG.

PLoS One. 2017 Sep 15;12(9):e0184897. doi: 10.1371/journal.pone.0184897. eCollection 2017.

42.

Discrete memory impairments in largely pure chronic users of MDMA.

Wunderli MD, Vonmoos M, Fürst M, Schädelin K, Kraemer T, Baumgartner MR, Seifritz E, Quednow BB.

Eur Neuropsychopharmacol. 2017 Oct;27(10):987-999. doi: 10.1016/j.euroneuro.2017.08.425. Epub 2017 Aug 31.

43.

Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria.

Hochuli M, Bollhalder S, Thierer C, Refardt J, Gerber P, Baumgartner MR.

Ann Nutr Metab. 2017;71(3-4):129-135. doi: 10.1159/000479746. Epub 2017 Aug 26.

44.

Commentary on current changes of the SoHT 2016 consensus on alcohol markers in hair and further background information.

Pragst F, Suesse S, Salomone A, Vincenti M, Cirimele V, Hazon J, Tsanaclis L, Kingston R, Sporkert F, Baumgartner MR.

Forensic Sci Int. 2017 Sep;278:326-333. doi: 10.1016/j.forsciint.2017.07.023. Epub 2017 Jul 27.

PMID:
28802209
45.

Cortisol concentration of regrown hair and hair from a previously unshorn area in dairy cows.

Braun U, Michel N, Baumgartner MR, Hässig M, Binz TM.

Res Vet Sci. 2017 Oct;114:412-415. doi: 10.1016/j.rvsc.2017.07.005. Epub 2017 Jul 9.

PMID:
28750212
46.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR.

J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1.

47.

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

Plessl T, Bürer C, Lutz S, Yue WW, Baumgartner MR, Froese DS.

Hum Mutat. 2017 Aug;38(8):988-1001. doi: 10.1002/humu.23251. Epub 2017 Jun 6.

48.

Chiral analysis of amphetamines in hair by liquid chromatography-tandem mass spectrometry: compliance-monitoring of attention deficit hyperactivity disorder (ADHD) patients under Elvanse® therapy and identification after controlled low-dose application.

Binz TM, Williner E, Strajhar P, Dolder PC, Liechti ME, Baumgartner MR, Kraemer T, Steuer AE.

Drug Test Anal. 2018 Feb;10(2):254-261. doi: 10.1002/dta.2208. Epub 2017 Jul 5.

PMID:
28440070
49.

Stable self-serving personality traits in recreational and dependent cocaine users.

Quednow BB, Hulka LM, Preller KH, Baumgartner MR, Eisenegger C, Vonmoos M.

PLoS One. 2017 Mar 2;12(3):e0172853. doi: 10.1371/journal.pone.0172853. eCollection 2017.

50.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.

Zeltner NA, Baumgartner MR, Bondarenko A, Ensenauer R, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt MA, Huemer M.

JIMD Rep. 2017;37:27-35. doi: 10.1007/8904_2017_11. Epub 2017 Mar 1.

Supplemental Content

Loading ...
Support Center