Nuoffer JM - Search Results

1

Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland.

Pers S, Gautschi M, Nuoffer JM, Schwarz HP, Christ E. Pers S, et al. Among authors: nuoffer jm. Swiss Med Wkly. 2014 Dec 23;144:w14074. doi: 10.4414/smw.2014.14074. eCollection 2014. Swiss Med Wkly. 2014. PMID: 25539422 Free article.

2

Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal.

Landolt MA, Nuoffer JM, Steinmann B, Superti-Furga A. Landolt MA, et al. Among authors: nuoffer jm. J Pediatr. 2002 May;140(5):516-21. doi: 10.1067/mpd.2002.123663. J Pediatr. 2002. PMID: 12032515

3

Noninvasive assessment of exercise-related intramyocellular acetylcarnitine in euglycemia and hyperglycemia in patients with type 1 diabetes using ¹H magnetic resonance spectroscopy: a randomized single-blind crossover study.

Boss A, Kreis R, Jenni S, Ith M, Nuoffer JM, Christ E, Boesch C, Stettler C. Boss A, et al. Among authors: nuoffer jm. Diabetes Care. 2011 Jan;34(1):220-2. doi: 10.2337/dc10-1534. Epub 2010 Oct 26. Diabetes Care. 2011. PMID: 20978101 Free PMC article. Clinical Trial.

4

Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II.

Nava E, Weber P, Gautschi M, Nuoffer JM, Grunt S. Nava E, et al. Among authors: nuoffer jm. J Child Neurol. 2012 Dec;27(12):1611-5. doi: 10.1177/0883073812438100. Epub 2012 Mar 20. J Child Neurol. 2012. PMID: 22433425

5

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia.

Gautschi M, Pavlovic M, Nuoffer JM. Gautschi M, et al. Among authors: nuoffer jm. JIMD Rep. 2012;2:45-50. doi: 10.1007/8904_2011_45. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430853 Free PMC article.

6

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. Rüegger CM, et al. Among authors: nuoffer jm. J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19. J Inherit Metab Dis. 2014. PMID: 23780642 Free PMC article.

7

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Häberli A, Gallati S, Schaller A. Jackson CB, et al. Among authors: nuoffer jm. J Med Genet. 2014 Mar;51(3):170-5. doi: 10.1136/jmedgenet-2013-101932. Epub 2013 Dec 23. J Med Genet. 2014. PMID: 24367056

8

Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.

Gautschi M, Merlini L, Calza AM, Hayflick S, Nuoffer JM, Fluss J. Gautschi M, et al. Among authors: nuoffer jm. Eur J Paediatr Neurol. 2014 Jul;18(4):516-9. doi: 10.1016/j.ejpn.2014.02.005. Epub 2014 Feb 25. Eur J Paediatr Neurol. 2014. PMID: 24636010

9

Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.

Gautschi M, Weisstanner C, Slotboom J, Nava E, Zürcher T, Nuoffer JM. Gautschi M, et al. Among authors: nuoffer jm. Pediatr Res. 2015 Jan;77(1-1):91-8. doi: 10.1038/pr.2014.154. Epub 2014 Oct 7. Pediatr Res. 2015. PMID: 25289702

10

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

Laemmle A, Hahn D, Hu L, Rüfenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Häberle J. Laemmle A, et al. Among authors: nuoffer jm. Mol Genet Metab. 2015 Mar;114(3):438-44. doi: 10.1016/j.ymgme.2015.01.002. Epub 2015 Jan 24. Mol Genet Metab. 2015. PMID: 25639153

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