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Items: 1 to 20 of 349

1.

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
2.

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. 2019 Nov 9. pii: nqz273. doi: 10.1093/ajcn/nqz273. [Epub ahead of print]

PMID:
31711109
3.

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. 2019 Oct 8. pii: S0022-3476(19)30960-6. doi: 10.1016/j.jpeds.2019.07.052. [Epub ahead of print]

PMID:
31604629
4.

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.

5.

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.

6.

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
7.

[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
8.

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
9.

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.

10.

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
11.

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.

PMID:
31204009
12.

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
13.

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
14.

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.

15.

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.

16.

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
17.

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.

18.

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.

19.

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.

20.

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

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