Works matching IS 01418955 AND DT 2018 AND VI 41 AND IP 1

Results: 21

Index of Authors.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 221, doi. 10.1007/s10545-018-0234-8
Publication type:
Article
Oral Presentations.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 37, doi. 10.1007/s10545-018-0233-9
Publication type:
Article
Oral Presentations.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 1, doi. 10.1007/s10545-018-0232-x
Publication type:
Article
Isolated aortic root dilation in homocystinuria.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 109, doi. 10.1007/s10545-017-0094-7
By:
- Lorenzini, Massimiliano;
- Guha, Nishan;
- Davison, James E.;
- Pitcher, Alex;
- Pandya, Bejal;
- Kemp, Helena;
- Lachmann, Robin;
- Elliott, Perry M.;
- Murphy, Elaine
Publication type:
Article
Impairment of astrocytic glutaminolysis in glutaric aciduria type I.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 91, doi. 10.1007/s10545-017-0096-5
By:
- Komatsuzaki, Shoko;
- Ediga, Raga Deepthi;
- Okun, Jürgen G.;
- Kölker, Stefan;
- Sauer, Sven W.
Publication type:
Article
Understanding childhood diabetes mellitus: new pathophysiological aspects.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 19, doi. 10.1007/s10545-017-0120-9
By:
- Grulich-Henn, Juergen;
- Klose, Daniela
Publication type:
Article
The curse of idiopathic.
Published in:
2018
By:
- O’Brien, Kevin J.;
- Gahl, William A.;
- Gochuico, Bernadette R.
Publication type:
Letter
Role of protein carbonylation in diabetes.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 29, doi. 10.1007/s10545-017-0104-9
By:
- Hecker, Markus;
- Wagner, Andreas H.
Publication type:
Article
Isolated sulfite oxidase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 101, doi. 10.1007/s10545-017-0089-4
By:
- Claerhout, Helena;
- Witters, Peter;
- Régal, Luc;
- Jansen, Katrien;
- Van Hoestenberghe, Marie-Rose;
- Breckpot, Jeroen;
- Vermeersch, Pieter
Publication type:
Article
Do inborn errors of metabolism confer or impede the risk of diabetes?
Published in:
2018
By:
- Peters, Verena;
- Vockley, Jerry
Publication type:
Editorial
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 49, doi. 10.1007/s10545-017-0013-y
By:
- Bloom, Kaitlyn;
- Mohsen, Al-Walid;
- Karunanidhi, Anuradha;
- El Demellawy, Dina;
- Reyes-Múgica, Miguel;
- Wang, Yudong;
- Ghaloul-Gonzalez, Lina;
- Otsubo, Chikara;
- Tobita, Kimi;
- Muzumdar, Radhika;
- Gong, Zhenwei;
- Tas, Emir;
- Basu, Shrabani;
- Chen, Jie;
- Bennett, Michael;
- Hoppel, Charles;
- Vockley, Jerry
Publication type:
Article
Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 59, doi. 10.1007/s10545-017-0069-8
By:
- Huynh, Frank K.;
- Hu, Xiaoke;
- Lin, Zhihong;
- Johnson, James D.;
- Hirschey, Matthew D.
Publication type:
Article
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 117, doi. 10.1007/s10545-017-0071-1
By:
- Vanoevelen, Jo M.;
- van Erven, Britt;
- Bierau, Jörgen;
- Huang, Xiaoping;
- Berry, Gerard T.;
- Vos, Rein;
- Coelho, Ana I.;
- Rubio-Gozalbo, M. Estela
Publication type:
Article
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 129, doi. 10.1007/s10545-017-0079-6
By:
- Kuster, Alice;
- Arnoux, Jean-Baptiste;
- Barth, Magalie;
- Lamireau, Delphine;
- Houcinat, Nada;
- Goizet, Cyril;
- Doray, Bérénice;
- Gobin, Stéphanie;
- Schiff, Manuel;
- Cano, Aline;
- Amsallem, Daniel;
- Barnerias, Christine;
- Chaumette, Boris;
- Plaze, Marion;
- Slama, Abdelhamid;
- Ioos, Christine;
- Desguerre, Isabelle;
- Lebre, Anne-Sophie;
- de Lonlay, Pascale;
- Christa, Laurence
Publication type:
Article
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Published in:
2018
By:
- Karaa, Amel;
- Rahman, Shamima;
- Lombès, Anne;
- Yu-Wai-Man, Patrick;
- Sheikh, Muniza K.;
- Alai-Hansen, Sherita;
- Cohen, Bruce H.;
- Dimmock, David;
- Emrick, Lisa;
- Falk, Marni J.;
- McCormack, Shana;
- Mirsky, David;
- Moore, Tony;
- Parikh, Sumit;
- Shoffner, John;
- Taivassalo, Tanja;
- Tarnopolsky, Mark;
- Tein, Ingrid;
- Odenkirchen, Joanne C.;
- Goldstein, Amy
Publication type:
Erratum
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 39, doi. 10.1007/s10545-017-0099-2
By:
- Peters, Verena;
- Zschocke, Johannes;
- Schmitt, Claus P.
Publication type:
Article
Metabolic pathways at the crossroads of diabetes and inborn errors.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 5, doi. 10.1007/s10545-017-0091-x
By:
- Goetzman, Eric S.;
- Gong, Zhenwei;
- Schiff, Manuel;
- Wang, Yan;
- Muzumdar, Radhika H.
Publication type:
Article
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.
Published in:
2018
By:
- Hikmat, Omar;
- Tzoulis, Charalampos;
- Klingenberg, Claus;
- Rasmussen, Magnhild;
- Tallaksen, Chantal M. E.;
- Brodtkorb, Eylert;
- Fiskerstrand, Torunn;
- McFarland, Robert;
- Rahman, Shamima;
- Bindoff, Laurence A.
Publication type:
Erratum
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 141, doi. 10.1007/s10545-017-0095-6
By:
- Arends, Maarten;
- Körver, Simon;
- Hughes, Derralynn A.;
- Mehta, Atul;
- Hollak, Carla E. M.;
- Biegstraaten, Marieke
Publication type:
Article
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 81, doi. 10.1007/s10545-017-0097-4
By:
- Meyburg, Jochen;
- Opladen, Thomas;
- Spiekerkötter, Ute;
- Schlune, Andrea;
- Schenk, Jens-Peter;
- Schmidt, Jan;
- Weitz, Jürgen;
- Okun, Jürgen;
- Bürger, Friederike;
- Omran, Tawfeg Ben;
- Abdoh, Ghassan;
- Al Rifai, Hilal;
- Monavari, Ahmad;
- Konstantopoulou, Vassiliki;
- Kölker, Stefan;
- Yudkoff, Marc;
- Hoffmann, Georg F.
Publication type:
Article
Lipoprotein-associated phospholipase A2 activity in obese adolescents with and without type 2 diabetes.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 73, doi. 10.1007/s10545-017-0100-0
By:
- Seyfarth, Julia;
- Reinehr, Thomas;
- Hoyer, Annika;
- Reinauer, Christina;
- Bächle, Christina;
- Karges, Beate;
- Mayatepek, Ertan;
- Roden, Michael;
- Hofer, Sabine E.;
- Wiegand, Susanna;
- Woelfle, Joachim;
- Kiess, Wieland;
- Rosenbauer, Joachim;
- Holl, Reinhard W.;
- Meissner, Thomas
Publication type:
Article