Works matching IS 01418955 AND DT 2022 AND VI 45 AND IP 4

Results: 19

The doxycycline paradox in primary mitochondrial diseases.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 659, doi. 10.1002/jimd.12531
By:
- Kozicz, Tamas;
- Rahman, Shamima;
- Morava, Eva
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 1, doi. 10.1002/jimd.12398
Publication type:
Article
Postauthorization safety study of betaine anhydrous.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499
By:
- Mütze, Ulrike;
- Gleich, Florian;
- Garbade, Sven F.;
- Plisson, Céline;
- Aldámiz‐Echevarría, Luis;
- Arrieta, Francisco;
- Ballhausen, Diana;
- Zielonka, Matthias;
- Petković Ramadža, Danijela;
- Baumgartner, Matthias R.;
- Cano, Aline;
- García Jiménez, María Concepción;
- Dionisi‐Vici, Carlo;
- Ješina, Pavel;
- Blom, Henk J.;
- Couce, Maria Luz;
- Meavilla Olivas, Silvia;
- Mention, Karine;
- Mochel, Fanny;
- Morris, Andrew A. M.
Publication type:
Article
Corrigendum.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 862, doi. 10.1002/jimd.12535
Publication type:
Article
Ornithine transcarbamylase deficiency: A diagnostic odyssey.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 661, doi. 10.1002/jimd.12530
By:
- Knerr, Ina;
- Cassiman, David
Publication type:
Article
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 710, doi. 10.1002/jimd.12524
By:
- Han, Sangwoo T.;
- Anderson, Katherine J.;
- Bjornsson, Hans T.;
- Longo, Nicola;
- Valle, David
Publication type:
Article
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 682, doi. 10.1002/jimd.12522
By:
- Hoegen, Brechtje;
- Hampstead, Juliet E.;
- Engelke, Udo F.H.;
- Kulkarni, Purva;
- Wevers, Ron A.;
- Brunner, Han G.;
- Coene, Karlien L. M.;
- Gilissen, Christian
Publication type:
Article
Therapeutic potential of deuterium‐stabilized (R)‐pioglitazone—PXL065—for X‐linked adrenoleukodystrophy.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 832, doi. 10.1002/jimd.12510
By:
- Monternier, Pierre‐Axel;
- Singh, Jaspreet;
- Parasar, Parveen;
- Theurey, Pierre;
- DeWitt, Sheila;
- Jacques, Vincent;
- Klett, Eric;
- Kaur, Navtej;
- Nagaraja, Tavarekere N.;
- Moller, David E.;
- Hallakou‐Bozec, Sophie
Publication type:
Article
Research priorities for mitochondrial disorders: Current landscape and patient and professional views.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 796, doi. 10.1002/jimd.12521
By:
- Thomas, Rhys H.;
- Hunter, Amy;
- Butterworth, Lyndsey;
- Feeney, Catherine;
- Graves, Tracey D.;
- Holmes, Sarah;
- Hossain, Pushpa;
- Lowndes, Jo;
- Sharpe, Jenny;
- Upadhyaya, Sheela;
- Varhaug, Kristin N.;
- Votruba, Marcela;
- Wheeler, Russell;
- Staley, Kristina;
- Rahman, Shamima
Publication type:
Article
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 748, doi. 10.1002/jimd.12512
By:
- Delnoy, Britt;
- Haskovic, Minela;
- Vanoevelen, Jo;
- Steinbusch, Laura K. M.;
- Vos, Esther Naomi;
- Knoops, Kèvin;
- Zimmermann, Luc J. I.;
- Noga, Marek;
- Lefeber, Dirk J.;
- Martini, Paolo G. V.;
- Coelho, Ana I.;
- Rubio‐Gozalbo, Maria Estela
Publication type:
Article
Oral administration of phenylalanine molecularly imprinted polymer (MIP) benefits PKU mouse model.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 696, doi. 10.1002/jimd.12513
By:
- Torab, Mansour;
- Jafari‐Sabet, Majid;
- Najafizadeh, Parvaneh;
- Sadegipour, Alireza;
- Rahimi‐Moghaddam, Parvaneh;
- Ebrahimi, Soltan A.
Publication type:
Article
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 759, doi. 10.1002/jimd.12509
By:
- Boulanger, Cécile;
- Stephenne, Xavier;
- Diederich, Jennifer;
- Mounkoro, Pierre;
- Chevalier, Nathalie;
- Ferster, Alina;
- Van Schaftingen, Emile;
- Veiga‐da‐Cunha, Maria
Publication type:
Article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
By:
- Wortmann, Saskia B.;
- Oud, Machteld M.;
- Alders, Mariëlle;
- Coene, Karlien L. M.;
- van der Crabben, Saskia N.;
- Feichtinger, René G.;
- Garanto, Alejandro;
- Hoischen, Alex;
- Langeveld, Mirjam;
- Lefeber, Dirk;
- Mayr, Johannes A.;
- Ockeloen, Charlotte W.;
- Prokisch, Holger;
- Rodenburg, Richard;
- Waterham, Hans R.;
- Wevers, Ron A.;
- van de Warrenburg, Bart P. C.;
- Willemsen, Michel A. A. P.;
- Wolf, Nicole I.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 848, doi. 10.1002/jimd.12504
By:
- Yverneau, Mathilde;
- Leroux, Stéphanie;
- Imbard, Apolline;
- Gleich, Florian;
- Arion, Alina;
- Moreau, Caroline;
- Nassogne, Marie‐Cécile;
- Szymanowski, Marie;
- Tardieu, Marine;
- Touati, Guy;
- Bueno, María;
- Chapman, Kimberly A.;
- Chien, Yin‐Hsiu;
- Huemer, Martina;
- Ješina, Pavel;
- Janssen, Mirian C. H.;
- Kölker, Stefan;
- Kožich, Viktor;
- Lavigne, Christian;
- Lund, Allan Meldgaard
Publication type:
Article
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 819, doi. 10.1002/jimd.12503
By:
- Schwantje, Marit;
- Ebberink, Merel S.;
- Doolaard, Mirjam;
- Ruiter, Jos P. N.;
- Fuchs, Sabine A.;
- Darin, Niklas;
- Hedberg‐Oldfors, Carola;
- Régal, Luc;
- Donker Kaat, Laura;
- Huidekoper, Hidde H.;
- Olpin, Simon;
- Cole, Duncan;
- Moat, Stuart J.;
- Visser, Gepke;
- Ferdinandusse, Sacha
Publication type:
Article
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 804, doi. 10.1002/jimd.12502
By:
- Schwantje, Marit;
- Fuchs, Sabine A.;
- de Boer, Lonneke;
- Bosch, Annet M.;
- Cuppen, Inge;
- Dekkers, Eugenie;
- Derks, Terry G. J.;
- Ferdinandusse, Sacha;
- Ijlst, Lodewijk;
- Houtkooper, Riekelt H.;
- Maase, Rose;
- van der Pol, W. Ludo;
- de Vries, Maaike C.;
- Verschoof‐Puite, Rendelien K.;
- Wanders, Ronald J. A.;
- Williams, Monique;
- Wijburg, Frits;
- Visser, Gepke
Publication type:
Article
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 734, doi. 10.1002/jimd.12500
By:
- Swanson, Michael A.;
- Miller, Kristen;
- Young, Sarah P.;
- Tong, Suhong;
- Ghaloul‐Gonzalez, Lina;
- Neira‐Fresneda, Juanita;
- Schlichting, Lisa;
- Peck, Cheryl;
- Gabel, Linda;
- Friederich, Marisa W.;
- Van Hove, Johan L. K.
Publication type:
Article
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 769, doi. 10.1002/jimd.12496
By:
- Abu Bakar, Nurulamin;
- Ashikov, Angel;
- Brum, Jaime Moritz;
- Smeets, Roel;
- Kersten, Marjan;
- Huijben, Karin;
- Keng, Wee Teik;
- Speck‐Martins, Carlos Eduardo;
- de Carvalho, Daniel Rocha;
- de Rizzo, Isabela Maria Pinto Oliveira;
- de Mello, Walquiria Domingues;
- Heiner‐Fokkema, Rebecca;
- Gorman, Kathleen;
- Grunewald, Stephanie;
- Michelakakis, Helen;
- Moraitou, Marina;
- Martinelli, Diego;
- van Scherpenzeel, Monique;
- Janssen, Mirian;
- de Boer, Lonneke
Publication type:
Article
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 782, doi. 10.1002/jimd.12472
By:
- Murphy, Patrick;
- Williams, Fay;
- Davagnanam, Indran;
- Chan, Edgar;
- Murphy, Elaine;
- Hughes, Derralynn;
- Quattrocchi, Gabriella;
- Werring, David J.;
- Lachman, Robin H.;
- Cipolotti, Lisa
Publication type:
Article