Works matching IS 01418955 AND DT 2023 AND VI 46 AND IP 5

Results: 20

SSIEM 2022 Annual Symposium in Freiburg, Germany.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 759, doi. 10.1002/jimd.12670

By:

Spiekerkoetter, Ute

Publication type:

Article

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 848, doi. 10.1002/jimd.12664

By:

Vianey‐Saban, Christine;
Guffon, Nathalie;
Fouilhoux, Alain;
Acquaviva, Cécile

Publication type:

Article

Integrative omics approaches to advance rare disease diagnostics.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 824, doi. 10.1002/jimd.12663

By:

Smirnov, Dmitrii;
Konstantinovskiy, Nikita;
Prokisch, Holger

Publication type:

Article

On pathways and blind alleys—The importance of biomarkers in vitamin B<sub>6</sub>‐dependent epilepsies.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 839, doi. 10.1002/jimd.12655

By:

Plecko, Barbara

Publication type:

Article

Disease models of mitochondrial aminoacyl‐tRNA synthetase defects.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 817, doi. 10.1002/jimd.12652

By:

Tyynismaa, Henna

Publication type:

Article

Genomic newborn screening: Are we entering a new era of screening?

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 778, doi. 10.1002/jimd.12650

By:

Spiekerkoetter, Ute;
Bick, David;
Scott, Richard;
Hopkins, Henrietta;
Krones, Tanja;
Gross, Edith Sky;
Bonham, James R.

Publication type:

Article

The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 906, doi. 10.1002/jimd.12648

By:

Greco, Benedetta;
Caviglia, Stefania;
Martinelli, Diego;
Capitello, Teresa Grimaldi;
Liccardo, Daniela;
De Nictolis, Francesca;
Pietrobattista, Andrea;
Huemer, Martina;
Piga, Simone;
Olivieri, Giorgia;
Spagnoletti, Gionata;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

Clinical presentation of 13 children with alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 916, doi. 10.1002/jimd.12647

By:

Kujawa, Mariusz J.;
Świętoń, Dominik;
Wierzba, Jolanta;
Grzywińska, Małgorzata;
Budziło, Oskar;
Limanówka, Monika;
Pierzynowska, Karolina;
Gaffke, Lidia;
Grabowski, Łukasz;
Cyske, Zuzanna;
Rintz, Estera;
Rąbalski, Łukasz;
Kosiński, Maciej;
Węgrzyn, Grzegorz;
Mański, Arkadiusz;
Anikiej‐Wiczenbach, Paulina;
Ranganath, Lakshminarayan;
Piskunowicz, Maciej

Publication type:

Article

Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 972, doi. 10.1002/jimd.12646

By:

Laur, Domitille;
Pichard, Samia;
Bekri, Soumeya;
Caillaud, Catherine;
Froissart, Roseline;
Levade, Thierry;
Roubertie, Agathe;
Desguerre, Isabelle;
Héron, Bénédicte;
Auvin, Stéphane

Publication type:

Article

View from inside—Gyrate atrophy: From defeat to action.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 761, doi. 10.1002/jimd.12645

By:

Schultink, Patrick

Publication type:

Article

Exercise testing and prescription in patients with inborn errors of muscle energy metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 763, doi. 10.1002/jimd.12644

By:

Batten, Kiera;
Bhattacharya, Kaustuv;
Simar, David;
Broderick, Carolyn

Publication type:

Article

Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 956, doi. 10.1002/jimd.12643

By:

den Hollander, Bibiche;
Brands, Marion M.;
de Boer, Lonneke;
Haaxma, Charlotte A.;
Lengyel, Anna;
van Essen, Peter;
Peters, Gera;
Kwast, Hanneke J. T.;
Klein, Willemijn M.;
Coene, Karlien L. M.;
Lefeber, Dirk J.;
van Karnebeek, Clara D. M.

Publication type:

Article

Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 931, doi. 10.1002/jimd.12642

By:

Houten, Sander M.;
Dodatko, Tetyana;
Dwyer, William;
Violante, Sara;
Chen, Hongjie;
Stauffer, Brandon;
DeVita, Robert J.;
Vaz, Frédéric M.;
Cross, Justin R.;
Yu, Chunli;
Leandro, João

Publication type:

Article

Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 943, doi. 10.1002/jimd.12640

By:

Vockley, Jerry;
Burton, Barbara K.;
Berry, Gerard;
Longo, Nicola;
Phillips, John;
Sanchez‐Valle, Amarilis;
Chapman, Kimberly A.;
Tanpaiboon, Pranoot;
Grunewald, Stephanie;
Murphy, Elaine;
Lu, Xiaoxiao;
Rahman, Syeda;
Ray, Kathryn;
Reineking, Bridget;
Pisani, Laura;
Ramirez, Antonio Nino

Publication type:

Article

Benefits of using exchangeable copper and the ratio of exchangeable copper in a real‐world cohort of patients with Wilson disease.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 982, doi. 10.1002/jimd.12639

By:

Mariño, Zoe;
Molera‐Busoms, Cristina;
Badenas, Celia;
Quintero‐Bernabeu, Jesús;
Torra, Mercè;
Forns, Xavier;
Artuch, Rafael

Publication type:

Article

Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 992, doi. 10.1002/jimd.12635

By:

Tokatly Latzer, Itay;
Roullet, Jean‐Baptiste;
Gibson, K. Michael;
Pearl, Phillip L.

Publication type:

Article

Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 796, doi. 10.1002/jimd.12622

By:

Huemer, Martina;
Bösch, Florin

Publication type:

Article

Advances in therapies for neurological lysosomal storage disorders.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 874, doi. 10.1002/jimd.12615

By:

Ellison, S.;
Parker, H.;
Bigger, B.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 1, doi. 10.1002/jimd.12519
Publication type:: Article

Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 806, doi. 10.1002/jimd.12605

By:

Rosenberg, Noa;
Stolwijk, Nina N.;
van den Berg, Sibren;
Heus, Joris J.;
van der Wel, Vincent;
van Gelder, Teun;
Bosch, Annet M.;
de Visser, Saco J.;
Hollak, Carla E. M.

Publication type:

Article