Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 3

Results: 25

Genomic newborn screening: Proposal of a two‐stage approach.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 518, doi. 10.1002/jimd.12381
By:
- Schaaf, Christian P.;
- Kölker, Stefan;
- Hoffmann, Georg F.
Publication type:
Article
Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long‐chain fatty acid oxidation disorders: FDA approval summary.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 515, doi. 10.1002/jimd.12377
By:
- Zand, Dina;
- Doan, Jenny;
- Yi, Sojeong;
- Wang, Jie;
- Ma, Lian;
- Akinshola, Emmanuel;
- Chakder, Sushanta;
- Meyer, Joette;
- Pacanowski, Michael;
- Johnson, Laura Lee;
- Donohue, Kathleen;
- Beitz, Julie
Publication type:
Article
Obituary.
Published in:
2021
Publication type:
Obituary
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 521, doi. 10.1002/jimd.12355
By:
- Berling, Édouard;
- Laforêt, Pascal;
- Wahbi, Karim;
- Labrune, Philippe;
- Petit, François;
- Ronzitti, Giuseppe;
- O'Brien, Alan
Publication type:
Article
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 666, doi. 10.1002/jimd.12363
By:
- Ranganath, Lakshminarayan R.;
- Khedr, Milad;
- Vinjamuri, Sobhan;
- Gallagher, James A.
Publication type:
Article
Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease?
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 763, doi. 10.1002/jimd.12359
By:
- Douglass, Meghan L.;
- Beard, Helen;
- Shoubridge, Andrew;
- Nazri, Nazzmer;
- King, Barbara;
- Trim, Paul J.;
- Duplock, Stephen K.;
- Snel, Marten F.;
- Hopwood, John J.;
- Hemsley, Kim M.
Publication type:
Article
Evolution of adrenoleukodystrophy model systems.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 544, doi. 10.1002/jimd.12357
By:
- Montoro, Roberto;
- Heine, Vivi M.;
- Kemp, Stephan;
- Engelen, Marc
Publication type:
Article
MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 728, doi. 10.1002/jimd.12356
By:
- Mallack, Eric J.;
- Turk, Bela R.;
- Yan, Helena;
- Price, Carrie;
- Demetres, Michelle;
- Moser, Ann B.;
- Becker, Catherine;
- Hollandsworth, Kim;
- Adang, Laura;
- Vanderver, Adeline;
- Van Haren, Keith;
- Ruzhnikov, Maura;
- Kurtzberg, Joanne;
- Maegawa, Gustavo;
- Orchard, Paul J.;
- Lund, Troy C.;
- Raymond, Gerald V.;
- Regelmann, Molly;
- Orsini, Joseph J.;
- Seeger, Elisa
Publication type:
Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
By:
- Forny, Patrick;
- Hörster, Friederike;
- Ballhausen, Diana;
- Chakrapani, Anupam;
- Chapman, Kimberly A.;
- Dionisi‐Vici, Carlo;
- Dixon, Marjorie;
- Grünert, Sarah C.;
- Grunewald, Stephanie;
- Haliloglu, Goknur;
- Hochuli, Michel;
- Honzik, Tomas;
- Karall, Daniela;
- Martinelli, Diego;
- Molema, Femke;
- Sass, Jörn Oliver;
- Scholl‐Bürgi, Sabine;
- Tal, Galit;
- Williams, Monique;
- Huemer, Martina
Publication type:
Article
Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 618, doi. 10.1002/jimd.12347
By:
- Sugahara, Go;
- Yamasaki, Chihiro;
- Yanagi, Ami;
- Furukawa, Suzue;
- Ogawa, Yuko;
- Fukuda, Akinari;
- Enosawa, Shin;
- Umezawa, Akihiro;
- Ishida, Yuji;
- Tateno, Chise
Publication type:
Article
Bone marrow transplantation into Abcd1‐deficient mice: Distribution of donor derived‐cells and biological characterization of the brain of the recipient mice.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 718, doi. 10.1002/jimd.12346
By:
- Morita, Masashi;
- Kaizawa, Taro;
- Yoda, Taiki;
- Oyama, Takuro;
- Asakura, Reina;
- Matsumoto, Shun;
- Nagai, Yoshinori;
- Watanabe, Yasuharu;
- Watanabe, Shiro;
- Kobayashi, Hiroshi;
- Kawaguchi, Kosuke;
- Yamamoto, Seiji;
- Shimozawa, Nobuyuki;
- So, Takanori;
- Imanaka, Tsuneo
Publication type:
Article
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 705, doi. 10.1002/jimd.12344
By:
- Sidorina, Anna;
- Catesini, Giulio;
- Levi Mortera, Stefano;
- Marzano, Valeria;
- Putignani, Lorenza;
- Boenzi, Sara;
- Taurisano, Roberta;
- Garibaldi, Matteo;
- Deodato, Federica;
- Dionisi‐Vici, Carlo
Publication type:
Article
Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 751, doi. 10.1002/jimd.12342
By:
- Vollebregt, Audrey A. M.;
- Ebbink, Berendine J.;
- Rizopoulos, Dimitris;
- Lequin, Maarten H.;
- Aarsen, Femke K.;
- Shapiro, Elsa G.;
- Ploeg, Ans T.;
- Hout, Johanna M. P.
Publication type:
Article
Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty‐seven patients with alkaptonuria.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 656, doi. 10.1002/jimd.12340
By:
- Ranganath, Lakshminarayan R.;
- Gallagher, James A.;
- Davidson, John;
- Vinjamuri, Sobhan
Publication type:
Article
The potential of dietary treatment in patients with glycogen storage disease type IV.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 693, doi. 10.1002/jimd.12339
By:
- Derks, Terry G. J.;
- Peeks, Fabian;
- Boer, Foekje;
- Fokkert‐Wilts, Marieke;
- Doef, Hubert P. J.;
- Heuvel, Marius C.;
- Szymańska, Edyta;
- Rokicki, Dariusz;
- Ryan, Patrick T.;
- Weinstein, David A.
Publication type:
Article
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 677, doi. 10.1002/jimd.12338
By:
- Kožich, Viktor;
- Sokolová, Jitka;
- Morris, Andrew A. M.;
- Pavlíková, Markéta;
- Gleich, Florian;
- Kölker, Stefan;
- Krijt, Jakub;
- Dionisi‐Vici, Carlo;
- Baumgartner, Matthias R.;
- Blom, Henk J.;
- Huemer, Martina;
- Aldámiz‐Echevarría, Luis;
- Arantes, Rodrigo Rezende;
- Arrieta, Francisco;
- Blasco‐Alonso, Javier;
- Brouwers, Martijn;
- Brunner‐Krainz, Michaela;
- Bueno, María;
- Peláez, Rosa Burgos;
- Cano, Aline
Publication type:
Article
Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 554, doi. 10.1002/jimd.12321
By:
- Wassenberg, Tessa;
- Deinum, Jaap;
- Ittersum, Frans J.;
- Kamsteeg, Erik‐Jan;
- Pennings, Maartje;
- Verbeek, Marcel M.;
- Wevers, Ron A.;
- Albada, Mirjam E.;
- Kema, Ido P.;
- Versmissen, Jorie;
- Meiracker, Ton;
- Lenders, Jacques W.M.;
- Monnens, Leo;
- Willemsen, Michèl A.
Publication type:
Article
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 593, doi. 10.1002/jimd.12318
By:
- Molema, Femke;
- Martinelli, Diego;
- Hörster, Friederike;
- Kölker, Stefan;
- Tangeraas, Trine;
- Koning, Barbara;
- Dionisi‐Vici, Carlo;
- Williams, Monique
Publication type:
Article
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 639, doi. 10.1002/jimd.12337
By:
- O'Reilly, Daniel;
- Crushell, Ellen;
- Hughes, Joanne;
- Ryan, Stephanie;
- Rogers, Yvonne;
- Borovickova, Ingrid;
- Mayne, Philip;
- Riordan, Michael;
- Awan, Atif;
- Carson, Kevin;
- Hunter, Kim;
- Lynch, Bryan;
- Shahwan, Amre;
- Rüfenacht, Véronique;
- Häberle, Johannes;
- Treacy, Eileen P.;
- Monavari, Ahmad A.;
- Knerr, Ina
Publication type:
Article
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 740, doi. 10.1002/jimd.12327
By:
- Gonzalez, Esteban Alberto;
- Tobar Leitão, Santiago Alonso;
- Soares, Douglas dos Santos;
- Tavares, Angela Maria Vicente;
- Giugliani, Roberto;
- Baldo, Guilherme;
- Matte, Ursula
Publication type:
Article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 629, doi. 10.1002/jimd.12335
By:
- Märtner, E. M. Charlotte;
- Maier, Esther M.;
- Mengler, Katharina;
- Thimm, Eva;
- Schiergens, Katharina A.;
- Marquardt, Thorsten;
- Santer, René;
- Weinhold, Natalie;
- Marquardt, Iris;
- Das, Anibh M.;
- Freisinger, Peter;
- Grünert, Sarah C.;
- Vossbeck, Judith;
- Steinfeld, Robert;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Dieckmann, Andrea;
- Näke, Andrea;
- Lindner, Martin;
- Heringer‐Seifert, Jana
Publication type:
Article
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 606, doi. 10.1002/jimd.12331
By:
- Staretz‐Chacham, Orna;
- Daas, Suha;
- Ulanovsky, Igor;
- Blau, Ayala;
- Rostami, Nira;
- Saraf‐Levy, Talya;
- Abu Salah, Nasser;
- Anikster, Yair;
- Banne, Ehud;
- Dar, Dalit;
- Dumin, Elena;
- Fattal‐Valevski, Aviva;
- Falik‐Zaccai, Tzipora;
- Hershkovitz, Eli;
- Josefsberg, Sagi;
- Khammash, Hatem;
- Keidar, Rimona;
- Korman, Stanley H.;
- Landau, Yuval;
- Lerman‐Sagie, Tally
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 1, doi. 10.1002/jimd.12258
Publication type:
Article
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 534, doi. 10.1002/jimd.12325
By:
- Souza, Paulo Victor Sgobbi;
- Badia, Bruno Mattos Lombardi;
- Farias, Igor Braga;
- Pinto, Wladimir Bocca Vieira de Rezende;
- Oliveira, Acary Souza Bulle;
- Akman, Hasan Orhan;
- DiMauro, Salvatore
Publication type:
Article
Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 777, doi. 10.1002/jimd.12323
By:
- Marelli, Cecilia;
- Lavigne, Christian;
- Stepien, Karolina M.;
- Janssen, Mirian C. H.;
- Feillet, Francois;
- Kožich, Viktor;
- Jesina, Pavel;
- Schule, Rebecca;
- Kessler, Christoph;
- Redonnet‐Vernhet, Isabelle;
- Regnier, Adeline;
- Burda, Patricie;
- Baumgartner, Matthias;
- Benoist, Jean‐Francois;
- Huemer, Martina;
- Mochel, Fanny
Publication type:
Article