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Items: 1 to 20 of 34

1.

Liver neoplasms in methylmalonic aciduria: An emerging complication.

Forny P, Hochuli M, Rahman Y, Deheragoda M, Weber A, Baruteau J, Grunewald S.

J Inherit Metab Dis. 2019 Jul 1. doi: 10.1002/jimd.12143. [Epub ahead of print]

PMID:
31260114
2.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

3.

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
4.

[Gaucher's disease - an overview about a sphingolipidosis].

Tamò R, Hochuli M, Beuschlein F, Nowak A.

Ther Umsch. 2018 Nov;75(4):209-214. doi: 10.1024/0040-5930/a000992. German.

PMID:
30468119
5.

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
6.

Islet transplantation as safe and efficacious method to restore glycemic control and to avoid severe hypoglycemia after donor organ failure in pancreas transplantation.

Gerber PA, Hochuli M, Benediktsdottir BD, Zuellig RA, Tschopp O, Glenck M, de Rougemont O, Oberkofler C, Spinas GA, Lehmann R.

Clin Transplant. 2018 Jan;32(1). doi: 10.1111/ctr.13153. Epub 2017 Dec 8.

7.

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.

8.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA.

J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. Review.

9.

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.

Hochuli M, Christ E, Meienberg F, Lehmann R, Krützfeldt J, Baumgartner MR.

J Inherit Metab Dis. 2015 Nov;38(6):1093-8. doi: 10.1007/s10545-015-9864-2. Epub 2015 Jun 25.

PMID:
26109257
10.

Hepatic glycogen storage disorders: what have we learned in recent years?

Burda P, Hochuli M.

Curr Opin Clin Nutr Metab Care. 2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181. Review.

11.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Review.

12.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM.

Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7.

13.

Sugar-sweetened beverages with moderate amounts of fructose, but not sucrose, induce Fatty Acid synthesis in healthy young men: a randomized crossover study.

Hochuli M, Aeberli I, Weiss A, Hersberger M, Troxler H, Gerber PA, Spinas GA, Berneis K.

J Clin Endocrinol Metab. 2014 Jun;99(6):2164-72. doi: 10.1210/jc.2013-3856. Epub 2014 Mar 6.

PMID:
24601726
14.

[Primary hyperparathyroidism].

Meier C, Hochuli M, Schneider D.

Praxis (Bern 1994). 2013 Nov 13;102(23):1399-404; quiz 1405-6. doi: 10.1024/1661-8157/a001508. German. No abstract available.

PMID:
24220059
15.
16.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J.

J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19.

17.

Moderate amounts of fructose consumption impair insulin sensitivity in healthy young men: a randomized controlled trial.

Aeberli I, Hochuli M, Gerber PA, Sze L, Murer SB, Tappy L, Spinas GA, Berneis K.

Diabetes Care. 2013 Jan;36(1):150-6. doi: 10.2337/dc12-0540. Epub 2012 Aug 28.

18.

Low to moderate sugar-sweetened beverage consumption impairs glucose and lipid metabolism and promotes inflammation in healthy young men: a randomized controlled trial.

Aeberli I, Gerber PA, Hochuli M, Kohler S, Haile SR, Gouni-Berthold I, Berthold HK, Spinas GA, Berneis K.

Am J Clin Nutr. 2011 Aug;94(2):479-85. doi: 10.3945/ajcn.111.013540. Epub 2011 Jun 15.

PMID:
21677052
19.

[Chest pain, dyspnea, discomfort with swallowing].

Meyer P, Götze O, Hochuli M.

Praxis (Bern 1994). 2011 Mar 2;100(5):308-10. doi: 10.1024/1661-8157/a00453. German.

PMID:
21365563
20.

[Muscle weakness: differential diagnosis and assessment].

Schwager S, Hochuli M, Jung HH.

Praxis (Bern 1994). 2010 Sep 22;99(19):1121-9; quiz 1129-30. doi: 10.1024/1661-8157/a000259. German. No abstract available.

PMID:
20859875

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