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Items: 1 to 50 of 1565

1.

Cardiac phenotype in propionic acidemia - Results of an observational monocentric study.

Kovacevic A, Garbade SF, Hoffmann GF, Gorenflo M, Kölker S, Staufner C.

Mol Genet Metab. 2020 Feb 10. pii: S1096-7192(20)30054-8. doi: 10.1016/j.ymgme.2020.02.004. [Epub ahead of print]

PMID:
32067920
2.

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye.

Saffari A, Ziegler A, Merkenschlager A, Krüger S, Kölker S, Hoffmann GF, Syrbe S.

Neuropediatrics. 2020 Feb 11. doi: 10.1055/s-0039-3402037. [Epub ahead of print]

PMID:
32045938
3.

The value of avian gross pathology in identifying endocrine disrupting properties.

Temple D, Springer T, Gallagher S, du Hoffmann G, Wheeler JR.

Regul Toxicol Pharmacol. 2020 Jan 22;112:104577. doi: 10.1016/j.yrtph.2020.104577. [Epub ahead of print]

4.

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, Kölker S, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.

Hum Mutat. 2020 Jan 15. doi: 10.1002/humu.23983. [Epub ahead of print]

PMID:
31943503
5.

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.

Klinke G, Richter S, Monostori P, Schmidt-Mader B, García-Cazorla A, Artuch R, Christ S, Opladen T, Hoffmann GF, Blau N, Okun JG.

J Inherit Metab Dis. 2020 Jan 13. doi: 10.1002/jimd.12213. [Epub ahead of print]

PMID:
31930732
6.

Opinion paper: Measuring livestock robustness and resilience: are we on the right track?

Llonch P, Hoffmann G, Bodas R, Mirbach D, Verwer C, Haskell MJ.

Animal. 2020 Jan 9:1-3. doi: 10.1017/S1751731119003306. [Epub ahead of print] No abstract available.

PMID:
31915103
7.

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T.

J Inherit Metab Dis. 2019 Dec 18. doi: 10.1002/jimd.12208. [Epub ahead of print]

PMID:
31849064
8.

Mechanism(s) of prolonged attenuation of allergic responses after modulation of idiotypic regulatory network.

Gorczynski RM, Maqbool T, Hoffmann G.

Allergy Asthma Clin Immunol. 2019 Dec 4;15:79. doi: 10.1186/s13223-019-0393-7. eCollection 2019.

9.

Systematic Y2H Screening Reveals Extensive Effector-Complex Formation.

Alcântara A, Bosch J, Nazari F, Hoffmann G, Gallei M, Uhse S, Darino MA, Olukayode T, Reumann D, Baggaley L, Djamei A.

Front Plant Sci. 2019 Nov 14;10:1437. doi: 10.3389/fpls.2019.01437. eCollection 2019.

10.

Sex-specific outcome after minimally invasive direct coronary artery bypass for single-vessel disease.

Friedrich C, Berndt R, Haneya A, Rusch R, Petzina R, Freitag-Wolf S, Cremer J, Hoffmann G.

Interact Cardiovasc Thorac Surg. 2019 Nov 28. pii: ivz279. doi: 10.1093/icvts/ivz279. [Epub ahead of print]

PMID:
31778160
11.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D.

Genet Med. 2019 Nov 25. doi: 10.1038/s41436-019-0698-4. [Epub ahead of print]

PMID:
31761904
12.

Dietary sugars and cardiometabolic risk factors: a network meta-analysis on isocaloric substitution interventions.

Schwingshackl L, Neuenschwander M, Hoffmann G, Buyken AE, Schlesinger S.

Am J Clin Nutr. 2020 Jan 1;111(1):187-196. doi: 10.1093/ajcn/nqz273.

PMID:
31711109
13.

Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.

Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Mütze U, Posset R, Weiss KH, Hoffmann GF, Okun JG.

J Pediatr. 2020 Jan;216:165-172.e4. doi: 10.1016/j.jpeds.2019.07.052. Epub 2019 Oct 8.

PMID:
31604629
14.

Imaging of morphological and biochemical hallmarks of apoptosis with optimized optogenetic tools.

Godwin WC, Hoffmann GF, Gray TJ, Hughes RM.

J Biol Chem. 2019 Nov 8;294(45):16918-16929. doi: 10.1074/jbc.RA119.009141. Epub 2019 Oct 3.

PMID:
31582560
15.

Inhibition of EZH2 methyltransferase decreases immunoediting of mesothelioma cells by autologous macrophages through a PD-1-dependent mechanism.

Hamaidia M, Gazon H, Hoyos C, Hoffmann GB, Louis R, Duysinx B, Willems L.

JCI Insight. 2019 Sep 19;4(18). pii: 128474. doi: 10.1172/jci.insight.128474.

16.

c-di-AMP assists osmoadaptation by regulating the Listeria monocytogenes potassium transporters KimA and KtrCD.

Gibhardt J, Hoffmann G, Turdiev A, Wang M, Lee VT, Commichau FM.

J Biol Chem. 2019 Nov 1;294(44):16020-16033. doi: 10.1074/jbc.RA119.010046. Epub 2019 Sep 9.

PMID:
31506295
17.

Early prediction of phenotypic severity in Citrullinemia Type 1.

Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.

Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30.

18.

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.

Al-Dirbashi OY, Alfadhel M, Al-Thihli K, Al Dhahouri N, Langhans CD, Al Hammadi Z, Al-Shamsi A, Hertecant J, Okun JG, Hoffmann GF, Al-Jasmi F.

Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9.

19.

Twenty Years of Reflections in Mutation Research.

Hoffmann GR.

Mutat Res. 2019 Apr - Jun;780:106-120. doi: 10.1016/j.mrrev.2019.05.004. Epub 2019 May 23.

PMID:
31395355
20.

Impact of different types of olive oil on cardiovascular risk factors: A systematic review and network meta-analysis.

Schwingshackl L, Krause M, Schmucker C, Hoffmann G, Rücker G, Meerpohl JJ.

Nutr Metab Cardiovasc Dis. 2019 Oct;29(10):1030-1039. doi: 10.1016/j.numecd.2019.07.001. Epub 2019 Jul 8.

PMID:
31378629
21.

[Gene therapies for neuromuscular diseases].

Saffari A, Weiler M, Hoffmann GF, Ziegler A.

Nervenarzt. 2019 Aug;90(8):809-816. doi: 10.1007/s00115-019-0761-z. Review. German.

PMID:
31286145
22.

Mediterranean diet and health status: Active ingredients and pharmacological mechanisms.

Schwingshackl L, Morze J, Hoffmann G.

Br J Pharmacol. 2019 Jun 26. doi: 10.1111/bph.14778. [Epub ahead of print] Review.

PMID:
31243760
23.

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. 2019 Mar 26;47(1):30-34. doi: 10.1002/jmd2.12026. eCollection 2019 May.

24.

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.

Zielonka M, Garbade SF, Kölker S, Hoffmann GF, Ries M.

J Inherit Metab Dis. 2019 Sep;42(5):975-983. doi: 10.1002/jimd.12138. Epub 2019 Jul 24.

PMID:
31222755
25.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW.

Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13.

26.

Impact of different dietary approaches on blood lipid control in patients with type 2 diabetes mellitus: a systematic review and network meta-analysis.

Neuenschwander M, Hoffmann G, Schwingshackl L, Schlesinger S.

Eur J Epidemiol. 2019 Sep;34(9):837-852. doi: 10.1007/s10654-019-00534-1. Epub 2019 Jun 14.

PMID:
31201670
27.

On Force and Form: Mechano-Biochemical Regulation of Extracellular Matrix.

Hoffmann GA, Wong JY, Smith ML.

Biochemistry. 2019 Nov 26;58(47):4710-4720. doi: 10.1021/acs.biochem.9b00219. Epub 2019 Jun 11.

PMID:
31144496
28.

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C.

Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8.

PMID:
31067009
29.

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

Saffari A, Brösse I, Wiemer-Kruel A, Wilken B, Kreuzaler P, Hahn A, Bernhard MK, van Tilburg CM, Hoffmann GF, Gorenflo M, Hethey S, Kaiser O, Kölker S, Wagner R, Witt O, Merkenschlager A, Möckel A, Roser T, Schlump JU, Serfling A, Spiegler J, Milde T, Ziegler A, Syrbe S.

Orphanet J Rare Dis. 2019 May 3;14(1):96. doi: 10.1186/s13023-019-1077-6.

30.

Intake of 12 food groups and disability-adjusted life years from coronary heart disease, stroke, type 2 diabetes, and colorectal cancer in 16 European countries.

Schwingshackl L, Knüppel S, Michels N, Schwedhelm C, Hoffmann G, Iqbal K, De Henauw S, Boeing H, Devleesschauwer B.

Eur J Epidemiol. 2019 Aug;34(8):765-775. doi: 10.1007/s10654-019-00523-4. Epub 2019 Apr 27.

31.

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
32.

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis.

Breuer M, Guglielmi L, Zielonka M, Hemberger V, Kölker S, Okun JG, Hoffmann GF, Carl M, Sauer SW, Opladen T.

PLoS One. 2019 Apr 17;14(4):e0215162. doi: 10.1371/journal.pone.0215162. eCollection 2019.

33.

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.

34.

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1.

Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker S, Hoffmann GF, Jung-Klawitter S.

Stem Cell Res. 2019 May;37:101428. doi: 10.1016/j.scr.2019.101428. Epub 2019 Mar 22.

35.

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.

Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Review.

PMID:
30952622
36.

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Ferreira CR, Hoffmann GF, Blau N.

Mol Genet Metab. 2019 May;127(1):28-30. doi: 10.1016/j.ymgme.2019.03.007. Epub 2019 Mar 26. Review.

PMID:
30928149
37.

Harm reduction treatment for smoking (HaRT-S): findings from a single-arm pilot study with smokers experiencing chronic homelessness.

Collins SE, Nelson LA, Stanton J, Mayberry N, Ubay T, Taylor EM, Hoffmann G, Goldstein SC, Saxon AJ, Malone DK, Clifasefi SL, Okuyemi K; HaRT-S Community Advisory Board.

Subst Abus. 2019;40(2):229-239. doi: 10.1080/08897077.2019.1572049. Epub 2019 Mar 29.

PMID:
30924732
38.

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.

Komatsuzaki S, Zielonka M, Mountford WK, Kölker S, Hoffmann GF, Garbade SF, Ries M.

Genet Med. 2019 Oct;21(10):2208-2215. doi: 10.1038/s41436-019-0480-7. Epub 2019 Mar 22.

PMID:
30899093
39.

Diverse plant viruses: a toolbox for dissection of cellular pathways.

Shukla A, López-González S, Hoffmann G, Hafrén A.

J Exp Bot. 2019 Jun 28;70(12):3029-3034. doi: 10.1093/jxb/erz122.

40.

Randomized controlled trial of harm reduction treatment for alcohol (HaRT-A) for people experiencing homelessness and alcohol use disorder.

Collins SE, Clifasefi SL, Nelson LA, Stanton J, Goldstein SC, Taylor EM, Hoffmann G, King VL, Hatsukami AS, Cunningham ZL, Taylor E, Mayberry N, Malone DK, Jackson TR.

Int J Drug Policy. 2019 May;67:24-33. doi: 10.1016/j.drugpo.2019.01.002. Epub 2019 Mar 6.

PMID:
30851620
41.

Synthesis of the extended phenacene molecules, [10]phenacene and [11]phenacene, and their performance in a field-effect transistor.

Okamoto H, Hamao S, Eguchi R, Goto H, Takabayashi Y, Yen PY, Liang LU, Chou CW, Hoffmann G, Gohda S, Sugino H, Liao YF, Ishii H, Kubozono Y.

Sci Rep. 2019 Mar 8;9(1):4009. doi: 10.1038/s41598-019-39899-4.

42.

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.

Monostori P, Klinke G, Hauke J, Richter S, Bierau J, Garbade SF, Hoffmann GF, Langhans CD, Haas D, Okun JG.

PLoS One. 2019 Feb 28;14(2):e0212458. doi: 10.1371/journal.pone.0212458. eCollection 2019.

43.

Chocolate and risk of chronic disease: a systematic review and dose-response meta-analysis.

Morze J, Schwedhelm C, Bencic A, Hoffmann G, Boeing H, Przybylowicz K, Schwingshackl L.

Eur J Nutr. 2020 Feb;59(1):389-397. doi: 10.1007/s00394-019-01914-9. Epub 2019 Feb 25.

44.

Food Groups and Risk of Overweight, Obesity, and Weight Gain: A Systematic Review and Dose-Response Meta-Analysis of Prospective Studies.

Schlesinger S, Neuenschwander M, Schwedhelm C, Hoffmann G, Bechthold A, Boeing H, Schwingshackl L.

Adv Nutr. 2019 Mar 1;10(2):205-218. doi: 10.1093/advances/nmy092.

45.

Fibronectin fiber creep under constant force loading.

Bradshaw MJ, Hoffmann GA, Wong JY, Smith ML.

Acta Biomater. 2019 Apr 1;88:78-85. doi: 10.1016/j.actbio.2019.02.022. Epub 2019 Feb 16.

PMID:
30780000
46.

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.

Lenz D, Staufner C, Wächter S, Hagedorn M, Ebersold J, Göhring G, Kölker S, Hoffmann GF, Jung-Klawitter S.

Stem Cell Res. 2019 Mar;35:101398. doi: 10.1016/j.scr.2019.101398. Epub 2019 Feb 11.

47.

Neurometabolic Hereditary Diseases of Adults.

Hoffmann GF.

J Inherit Metab Dis. 2019 Feb 13. doi: 10.1002/jimd.12074. [Epub ahead of print]

PMID:
30761556
48.

Screening for asymptomatic β-cell autoimmunity in young children.

Ziegler AG, Hoffmann GF, Hasford J, Larsson HE, Danne T, Berner R, Penno M, Koralova A, Dunne J, Bonifacio E.

Lancet Child Adolesc Health. 2019 May;3(5):288-290. doi: 10.1016/S2352-4642(19)30028-8. Epub 2019 Feb 10. No abstract available.

PMID:
30745054
49.

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
50.

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M.

J Inherit Metab Dis. 2019 Mar;42(2):295-302. doi: 10.1002/jimd.12010. Epub 2019 Jan 28.

PMID:
30693535

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