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Items: 1 to 20 of 1481

1.

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.

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

Genet Med. 2018 Jun 6. doi: 10.1038/s41436-018-0051-3. [Epub ahead of print]

PMID:
29875421
2.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y.

Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10.

PMID:
29754768
3.

Oxidative C-N fusion of pyridinyl-substituted porphyrins.

Berthelot M, Hoffmann G, Bousfiha A, Echaubard J, Roger J, Cattey H, Romieu A, Lucas D, Fleurat-Lessard P, Devillers CH.

Chem Commun (Camb). 2018 May 24;54(43):5414-5417. doi: 10.1039/c8cc01375f.

PMID:
29726882
4.

Comparative effects of different dietary approaches on blood pressure in hypertensive and pre-hypertensive patients: A systematic review and network meta-analysis.

Schwingshackl L, Chaimani A, Schwedhelm C, Toledo E, Pünsch M, Hoffmann G, Boeing H.

Crit Rev Food Sci Nutr. 2018 May 2:1-14. doi: 10.1080/10408398.2018.1463967. [Epub ahead of print]

PMID:
29718689
5.

Generating the evidence for risk reduction: a contribution to the future of food-based dietary guidelines.

Schwingshackl L, Schlesinger S, Devleesschauwer B, Hoffmann G, Bechthold A, Schwedhelm C, Iqbal K, Knüppel S, Boeing H.

Proc Nutr Soc. 2018 Apr 30:1-13. doi: 10.1017/S0029665118000125. [Epub ahead of print]

PMID:
29708078
6.

Short and Protecting-Group-Free Approach to the (-)-Δ8-THC-Motif: Synthesis of THC-Analogues, (-)-Machaeriol B and (-)-Machaeriol D.

Hoffmann G, Studer A.

Org Lett. 2018 May 18;20(10):2964-2966. doi: 10.1021/acs.orglett.8b01005. Epub 2018 Apr 27.

PMID:
29701472
7.

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 Apr 17. doi: 10.1002/ana.25233. [Epub ahead of print]

PMID:
29665094
8.

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Wolf NI, Zschocke J, Jakobs C, Rating D, Hoffmann GF.

Brain. 2018 Jun 1;141(6):e49. doi: 10.1093/brain/awy095. No abstract available.

PMID:
29659736
9.

Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

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

Genet Med. 2018 Apr;20(4):474. doi: 10.1038/gim.2017.87. Epub 2017 Sep 28.

PMID:
29632345
10.

Endothelial progenitor cells accelerate endothelial regeneration in an in vitro model of Shigatoxin-2a-induced injury via soluble growth factors.

Patry C, Betzen C, Fathalizadeh F, Fichtner A, Westhoff JH, Fleming T, Eckstein V, Bruckner T, Bielaszewska M, Karch H, Hoffmann GF, Tönshoff B, Rafat N.

Am J Physiol Renal Physiol. 2018 Mar 7. doi: 10.1152/ajprenal.00633.2017. [Epub ahead of print]

PMID:
29513070
11.

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C.

Genet Med. 2018 Feb 8. doi: 10.1038/gim.2017.260. [Epub ahead of print]

PMID:
29419818
12.

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C.

Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31.

PMID:
29396028
13.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.

Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann GF, Kotzaeridou U, Lichvarova L, Liiv M, Makowski C, Mandel M, Meitinger T, Pajusalu S, Rodenburg RJ, Safiulina D, Strom TM, Talvik I, Vaarmann A, Wilson C, Kaasik A, Haack TB, Õunap K.

Eur J Hum Genet. 2018 Mar;26(3):407-419. doi: 10.1038/s41431-017-0001-6. Epub 2018 Jan 17.

PMID:
29343804
14.

A network meta-analysis on the comparative efficacy of different dietary approaches on glycaemic control in patients with type 2 diabetes mellitus.

Schwingshackl L, Chaimani A, Hoffmann G, Schwedhelm C, Boeing H.

Eur J Epidemiol. 2018 Feb;33(2):157-170. doi: 10.1007/s10654-017-0352-x. Epub 2018 Jan 4.

15.

A role for CENP-A/Cse4 phosphorylation on serine 33 in deposition at the centromere.

Hoffmann G, Samel-Pommerencke A, Weber J, Cuomo A, Bonaldi T, Ehrenhofer-Murray AE.

FEMS Yeast Res. 2018 Feb 1;18(1). doi: 10.1093/femsyr/fox094.

PMID:
29272409
16.

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.

Simm F, Griesbeck A, Choukair D, Weiß B, Paramasivam N, Klammt J, Schlesner M, Wiemann S, Martinez C, Hoffmann GF, Pfäffle RW, Bettendorf M, Rappold GA.

Genet Med. 2017 Oct 26. doi: 10.1038/gim.2017.165. [Epub ahead of print]

PMID:
29261175
17.

Food groups and risk of colorectal cancer.

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

Int J Cancer. 2018 May 1;142(9):1748-1758. doi: 10.1002/ijc.31198. Epub 2017 Dec 14.

PMID:
29210053
18.

Point shear wave elastography (pSWE) using Acoustic Radiation Force Impulse (ARFI) imaging: a feasibility study and norm values for renal parenchymal stiffness in healthy children and adolescents.

Grass L, Szekely N, Alrajab A, Bui-Ta TTT, Hoffmann GF, Wühl E, Schenk JP.

Med Ultrason. 2017 Nov 29;19(4):366-373. doi: 10.11152/mu-1078.

19.

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B.

Mol Genet Metab. 2018 Jan;123(1):1-5. doi: 10.1016/j.ymgme.2017.11.005. Epub 2017 Nov 20. Review.

PMID:
29174366
20.

Food Groups and Risk of Hypertension: A Systematic Review and Dose-Response Meta-Analysis of Prospective Studies.

Schwingshackl L, Schwedhelm C, Hoffmann G, Knüppel S, Iqbal K, Andriolo V, Bechthold A, Schlesinger S, Boeing H.

Adv Nutr. 2017 Nov 15;8(6):793-803. doi: 10.3945/an.117.017178. Print 2017 Nov. Review.

PMID:
29141965

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