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Items: 1 to 20 of 61

1.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.

J Inherit Metab Dis. 2019 Apr 14. doi: 10.1002/jimd.12100. [Epub ahead of print] Review.

PMID:
30982989
2.

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.

Teufel U, Burgard P, Meyburg J, Lindner M, Poeschl J, Ruef P, Hoffmann GF, Kölker S.

Orphanet J Rare Dis. 2019 Apr 8;14(1):80. doi: 10.1186/s13023-019-1055-z.

3.

Analytical and clinical validation of a microbial cell-free DNA sequencing test for infectious disease.

Blauwkamp TA, Thair S, Rosen MJ, Blair L, Lindner MS, Vilfan ID, Kawli T, Christians FC, Venkatasubrahmanyam S, Wall GD, Cheung A, Rogers ZN, Meshulam-Simon G, Huijse L, Balakrishnan S, Quinn JV, Hollemon D, Hong DK, Vaughn ML, Kertesz M, Bercovici S, Wilber JC, Yang S.

Nat Microbiol. 2019 Apr;4(4):663-674. doi: 10.1038/s41564-018-0349-6. Epub 2019 Feb 11.

PMID:
30742071
4.

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
5.

LiveKraken--real-time metagenomic classification of illumina data.

Tausch SH, Strauch B, Andrusch A, Loka TP, Lindner MS, Nitsche A, Renard BY.

Bioinformatics. 2018 Nov 1;34(21):3750-3752. doi: 10.1093/bioinformatics/bty433.

PMID:
29868852
6.

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
7.

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
8.

Issues with European guidelines for phenylketonuria.

Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. No abstract available.

PMID:
28842158
9.

Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica.

Hammersen J, Has C, Galiano M, Lindner M, Rossi R, Kohlhase J, Schneider H.

Clin Pediatr (Phila). 2018 Jan;57(1):99-102. doi: 10.1177/0009922816685820. Epub 2017 Jan 5. No abstract available.

PMID:
28056538
10.

Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography.

Choukair D, Kneppo C, Feneberg R, Schönau E, Lindner M, Kölker S, Hoffmann GF, Tönshoff B.

J Inherit Metab Dis. 2017 Mar;40(2):219-226. doi: 10.1007/s10545-016-0002-6. Epub 2016 Nov 22.

PMID:
27878409
11.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors.

J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. Review.

PMID:
27853989
12.

HiLive: real-time mapping of illumina reads while sequencing.

Lindner MS, Strauch B, Schulze JM, Tausch SH, Dabrowski PW, Nitsche A, Renard BY.

Bioinformatics. 2017 Mar 15;33(6):917-319. doi: 10.1093/bioinformatics/btw659.

PMID:
27794555
13.

DUDes: a top-down taxonomic profiler for metagenomics.

Piro VC, Lindner MS, Renard BY.

Bioinformatics. 2016 Aug 1;32(15):2272-80. doi: 10.1093/bioinformatics/btw150. Epub 2016 Mar 24.

PMID:
27153591
14.

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Diez-Fernandez C, Rüfenacht V, Santra S, Lund AM, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek CD, Häberle J.

Genet Med. 2016 Oct;18(10):991-1000. doi: 10.1038/gim.2015.201. Epub 2016 Feb 25. Erratum in: Genet Med. 2016 Jun;18(6):649.

PMID:
26913920
15.

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

Kunz JB, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun JG, Hoffmann GF, Bruckner T, Muckenthaler MU, Kulozik AE.

Ann Hematol. 2016 Feb;95(3):397-402. doi: 10.1007/s00277-015-2573-y. Epub 2015 Dec 12.

PMID:
26658910
16.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.

Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ.

J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7.

PMID:
26642971
17.

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.

Burgard P, Kölker S, Haege G, Lindner M, Hoffmann GF.

J Inherit Metab Dis. 2016 Mar;39(2):219-29. doi: 10.1007/s10545-015-9901-1. Epub 2015 Dec 3.

PMID:
26634836
18.

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF.

Mol Genet Metab. 2016 Jan;117(1):19-26. doi: 10.1016/j.ymgme.2015.11.007. Epub 2015 Nov 14.

PMID:
26597322
19.

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.

Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Review.

20.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

Gramer G, Haege G, Fang-Hoffmann J, Hoffmann GF, Bartram CR, Hinderhofer K, Burgard P, Lindner M.

JIMD Rep. 2015;23:101-12. doi: 10.1007/8904_2015_439. Epub 2015 May 5.

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