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No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1186, doi. 10.1002/jimd.12393
By:
- Løkken, Nicoline;
- Khawajazada, Tahmina;
- Storgaard, Jesper Helbo;
- Raaschou‐Pedersen, Daniel;
- Christensen, Maja Elling;
- Hornsyld, Tessa Munkeboe;
- Krag, Thomas;
- Ørngreen, Mette C.;
- Vissing, John
Publication type:
Article
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1<sup>tm1Kds</sup> mice and X‐linked adrenoleukodystrophy patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1174, doi. 10.1002/jimd.12389
By:
- Kettwig, Matthias;
- Klemp, Henry;
- Nessler, Stefan;
- Streit, Frank;
- Krätzner, Ralph;
- Rosewich, Hendrik;
- Gärtner, Jutta
Publication type:
Article
Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1165, doi. 10.1002/jimd.12382
By:
- Cohen, Yael;
- Frydman, Dafna;
- Rotem, Reut;
- Kofman, Roei;
- Zimran, Ari;
- Revel‐Vilk, Shoshana;
- Grisaru‐Granovsky, Sorina
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1, doi. 10.1002/jimd.12260
Publication type:
Article
Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1085, doi. 10.1002/jimd.12421
By:
- Farrell, Sheila;
- Karp, Jacqueline;
- Hager, Rebecca;
- Wang, Yan;
- Adeniyi, Oluseyi;
- Wang, Jie;
- Li, Liang;
- Ma, Lian;
- Peretz, Jackye;
- Summan, Mukesh;
- Kong, Nicolas;
- White, Michael;
- Pacanowski, Michael;
- Price, Dionne;
- Filie, Jane;
- Donohue, Kathleen;
- Joffe, Hylton
Publication type:
Article
Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1099, doi. 10.1002/jimd.12418
By:
- Chevalier, Kevin;
- Benyounes, Nadia;
- Obadia, Michaël Alexandre;
- Van Der Vynckt, Clélie;
- Morvan, Erwan;
- Tibi, Thierry;
- Poujois, Aurélia
Publication type:
Article
Mucopolysaccharidoses type I gene therapy.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1088, doi. 10.1002/jimd.12414
By:
- Hurt, Sarah C.;
- Dickson, Patricia I.;
- Curiel, David T.
Publication type:
Article
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1272, doi. 10.1002/jimd.12412
By:
- Brennenstuhl, Heiko;
- Nashawi, Mohammed;
- Schröter, Julian;
- Baronio, Federico;
- Beedgen, Lars;
- Gleich, Florian;
- Jeltsch, Kathrin;
- von Landenberg, Christina;
- Martini, Silvia;
- Simon, Anna;
- Thiel, Christian;
- Tsiakas, Konstantinos;
- Opladen, Thomas;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Haas, Dorothea
Publication type:
Article
In vitro functional analysis of four variants of human asparagine synthetase.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1226, doi. 10.1002/jimd.12408
By:
- Matsumoto, Hideki;
- Kawashima, Nana;
- Yamamoto, Takahiro;
- Nakama, Mina;
- Otsuka, Hiroki;
- Ago, Yasuhiko;
- Sasai, Hideo;
- Kubota, Kazuo;
- Ozeki, Michio;
- Kawamoto, Norio;
- Esaka, Yukihiro;
- Ohnishi, Hidenori
Publication type:
Article
High dose genistein in Sanfilippo syndrome: A randomised controlled trial.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1248, doi. 10.1002/jimd.12407
By:
- Ghosh, Arunabha;
- Rust, Stewart;
- Langford‐Smith, Kia;
- Weisberg, Daniel;
- Canal, Maria;
- Breen, Catherine;
- Hepburn, Michelle;
- Tylee, Karen;
- Vaz, Frédéric M.;
- Vail, Andy;
- Wijburg, Frits;
- O'Leary, Claire;
- Parker, Helen;
- Wraith, J. Ed;
- Bigger, Brian W.;
- Jones, Simon A.
Publication type:
Article
A new D‐galactose treatment monitoring index for PGM1‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1263, doi. 10.1002/jimd.12406
By:
- Perales‐Clemente, Ester;
- Liedtke, Kristen;
- Studinski, April;
- Radenkovic, Silvia;
- Gavrilov, Dimitar;
- Oglesbee, Devin;
- Matern, Dietrich;
- Rinaldo, Piero;
- Tortorelli, Silvia;
- Morava, Eva;
- Raymond, Kimiyo
Publication type:
Article
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1235, doi. 10.1002/jimd.12404
By:
- Gobin‐Limballe, Stephanie;
- Ottolenghi, Chris;
- Reyal, Fabien;
- Arnoux, Jean‐Baptiste;
- Magen, Maryse;
- Simon, Marie;
- Brassier, Anaïs;
- Jabot‐Hanin, Fabienne;
- Lonlay, Pascale De;
- Pontoizeau, Clement;
- Guirat, Manel;
- Rio, Marlene;
- Gesny, Roselyne;
- Gigarel, Nadine;
- Royer, Ghislaine;
- Steffann, Julie;
- Munnich, Arnold;
- Bonnefont, Jean‐Paul
Publication type:
Article
Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1199, doi. 10.1002/jimd.12403
By:
- Toquet, Ségolène;
- Spodenkiewicz, Marta;
- Douillard, Claire;
- Maillot, François;
- Arnoux, Jean‐Baptiste;
- Damaj, Lena;
- Odent, Sylvie;
- Moreau, Caroline;
- Redonnet‐Vernhet, Isabelle;
- Mesli, Samir;
- Servais, Aude;
- Noel, Esther;
- Charriere, Sybill;
- Rigalleau, Vincent;
- Lavigne, Christian;
- Kaphan, Elsa;
- Roubertie, Agathe;
- Besson, Gérard;
- Bigot, Adrien;
- Servettaz, Amélie
Publication type:
Article
Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1215, doi. 10.1002/jimd.12394
By:
- Fogh, Sarah;
- Dipace, Graziana;
- Bie, Anne;
- Veiga‐da‐Cunha, Maria;
- Hansen, Jakob;
- Kjeldsen, Margrethe;
- Mosegaard, Signe;
- Ribes, Antonia;
- Gregersen, Niels;
- Aagaard, Lars;
- Van Schaftingen, Emile;
- Olsen, Rikke K. J.
Publication type:
Article
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1151, doi. 10.1002/jimd.12388
By:
- Fumagalli, Francesca;
- Zambon, Alberto A.;
- Rancoita, Paola M. V.;
- Baldoli, Cristina;
- Canale, Sabrina;
- Spiga, Ivana;
- Medaglini, Stefania;
- Penati, Rachele;
- Facchini, Marcella;
- Ciotti, Francesca;
- Sarzana, Marina;
- Lorioli, Laura;
- Cesani, Martina;
- Natali Sora, Maria Grazia;
- Del Carro, Ubaldo;
- Cugnata, Federica;
- Antonioli, Gigliola;
- Recupero, Salvatore;
- Calbi, Valeria;
- Di Serio, Clelia
Publication type:
Article
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1136, doi. 10.1002/jimd.12383
By:
- Peeks, Fabian;
- Hoogeveen, Irene J.;
- Feldbrugge, R. Lude;
- Burghard, Rob;
- de Boer, Foekje;
- Fokkert‐Wilts, Marieke J.;
- van der Klauw, Melanie M.;
- Oosterveer, Maaike H.;
- Derks, Terry G. J.
Publication type:
Article
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1124, doi. 10.1002/jimd.12386
By:
- Rossi, Alessandro;
- Hoogeveen, Irene J.;
- Lubout, Charlotte M. A.;
- de Boer, Foekje;
- Fokkert‐Wilts, Marieke J.;
- Rodenburg, Iris L.;
- van Dam, Esther;
- Grünert, Sarah C.;
- Martinelli, Diego;
- Scarpa, Maurizio;
- Dekker, Hanka;
- te Boekhorst, Sebastiaan T.;
- van Spronsen, Francjan J.;
- Derks, Terry G. J.
Publication type:
Article
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1113, doi. 10.1002/jimd.12385
By:
- Steinbusch, Laura K.M.;
- Wang, Ping;
- Waterval, Huub W.A.H.;
- Stassen, Fons A.P.M.;
- Coene, Karlien L.M.;
- Engelke, Udo F.H.;
- Habets, Daphna D.J.;
- Bierau, Jörgen;
- Körver‐Keularts, Irene M.L.W.
Publication type:
Article

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