Works matching IS 01418955 AND DT 2024 AND VI 47 AND IP 4

Results: 21

Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients—FDA Approval summary.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 575, doi. 10.1002/jimd.12754
By:
- Hon, Yuen Yi;
- Zaidi, Anita;
- Giffin, Andrew;
- Wang, Yan;
- Lei, Nie;
- Hossain, Md Nayeem;
- Wang, Jie;
- Li, Hongshan;
- Liu, Guansheng;
- Liu, Jiang;
- Yang, Yuching;
- Zhu, Hao;
- Pacanowski, Michael;
- McLeod‐Flynn, Laurie;
- Summan, Mukesh;
- Liu, Yongmin;
- Sheikh, Faruk;
- Dickensheets, Harold;
- Kim, Jennifer;
- McWilliams, Ian
Publication type:
Article
Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 578, doi. 10.1002/jimd.12744
By:
- Luquetti, Daniela V.;
- Jeng, Linda J. B.;
- Donohue, Kathleen M.;
- Maynard, Janet W.;
- Morris, Emily;
- Wang, Yan;
- Nie, Lei;
- Adeniyi, Oluseyi;
- Ready, Travis;
- Li, RuoJing;
- Wang, Jie;
- Liu, Jiang;
- Pacanowski, Michael;
- McNerney, Mary Ellen;
- Akinshola, B. Emmanuel;
- McLeod‐Flynn, Laurie;
- Weis, Shawna;
- Summan, Mukesh;
- Namuswe, Frances;
- Shafiei, Hamid
Publication type:
Article
Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 805, doi. 10.1002/jimd.12743
By:
- Klein, Alexandra;
- Klug, Katharina;
- Breyer, Maximilian;
- Grüner, Julia;
- Medala, Vijay Krishna;
- Nordbeck, Peter;
- Wanner, Christoph;
- Klopocki, Eva;
- Üçeyler, Nurcan
Publication type:
Article
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 703, doi. 10.1002/jimd.12742
By:
- Derks, Britt;
- Kumar, Varsha Shashi;
- Yadnik, Sai;
- Panis, Bianca;
- Bosch, Annet M.;
- Cassiman, David;
- Janssen, Mirian C. H.;
- Schuhmann, Teresa;
- Rubio‐Gozalbo, M. Estela;
- Jansma, Bernadette M.
Publication type:
Article
Altered neural oscillations in classical galactosaemia during sentence production.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 690, doi. 10.1002/jimd.12740
By:
- Mazzini, Sara;
- Yadnik, Sai;
- Timmers, Inge;
- Rubio‐Gozalbo, Estela;
- Jansma, Bernadette M.
Publication type:
Article
Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 766, doi. 10.1002/jimd.12739
By:
- Daniel, Earnest J. P.;
- Edmondson, Andrew C.;
- Argon, Yair;
- Alsharhan, Hind;
- Lam, Christina;
- Freeze, Hudson H.;
- He, Miao
Publication type:
Article
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 746, doi. 10.1002/jimd.12738
By:
- Gillingham, Melanie B.;
- Choi, Dongseok;
- Gregor, Ashley;
- Wongchaisuwat, Nida;
- Black, Danielle;
- Scanga, Hannah L.;
- Nischal, Ken K.;
- Sahel, Jose‐Alain;
- Arnold, Georgianne;
- Vockley, Jerry;
- Harding, Cary O.;
- Pennesi, Mark E.
Publication type:
Article
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 716, doi. 10.1002/jimd.12736
By:
- van den Dorpel, J. J. A.;
- Mackenbach, M. J.;
- Dremmen, M. H. G.;
- van der Vlugt, W. M. C.;
- Rizopoulos, D.;
- van Doorn, P. A.;
- van der Ploeg, A. T.;
- Muetzel, R.;
- van der Beek, N. A. M. E.;
- van den Hout, J. M. P.
Publication type:
Article
Genetic aetiologies of acute liver failure.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 582, doi. 10.1002/jimd.12733
By:
- Hegarty, Robert;
- Thompson, Richard J.
Publication type:
Article
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 624, doi. 10.1002/jimd.12732
By:
- van Wegberg, A. M. J.;
- van der Weerd, J. C.;
- Engelke, U. F. H.;
- Coene, K. L. M.;
- Jahja, R.;
- Bakker, S. J. L.;
- Huijbregts, S. C. J.;
- Wevers, R. A.;
- Heiner‐Fokkema, M. R.;
- van Spronsen, F. J.
Publication type:
Article
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 674, doi. 10.1002/jimd.12731
By:
- Reischl‐Hajiabadi, Anna T.;
- Schnabel, Elena;
- Gleich, Florian;
- Mengler, Katharina;
- Lindner, Martin;
- Burgard, Peter;
- Posset, Roland;
- Lommer‐Steinhoff, Svenja;
- Grünert, Sarah C.;
- Thimm, Eva;
- Freisinger, Peter;
- Hennermann, Julia B.;
- Krämer, Johannes;
- Gramer, Gwendolyn;
- Lenz, Dominic;
- Christ, Stine;
- Hörster, Friederike;
- Hoffmann, Georg F.;
- Garbade, Sven F.;
- Kölker, Stefan
Publication type:
Article
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 598, doi. 10.1002/jimd.12730
By:
- Schwahn, Bernd C.;
- van Spronsen, Francjan;
- Misko, Albert;
- Pavaine, Julija;
- Holmes, Victoria;
- Spiegel, Ronen;
- Schwarz, Guenter;
- Wong, Flora;
- Horman, Alistair;
- Pitt, James;
- Sass, Jörn Oliver;
- Lubout, Charlotte
Publication type:
Article
Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 664, doi. 10.1002/jimd.12728
By:
- Norman, B. P.;
- Sutherland, H.;
- Wilson, P. J. M.;
- Rutland, D. A.;
- Milan, A. M.;
- Hughes, A. T.;
- Davison, A. S.;
- Khedr, M.;
- Jarvis, J. C.;
- Gallagher, J. A.;
- Bou‐Gharios, G.;
- Ranganath, L. R.
Publication type:
Article
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 818, doi. 10.1002/jimd.12727
By:
- Mauhin, Wladimir;
- Dzangue‐Tchoupou, Gaelle;
- Amelin, Damien;
- Corneau, Aurélien;
- Lamari, Foudil;
- Allenbach, Yves;
- Dussol, Bertrand;
- Leguy‐Seguin, Vanessa;
- D'Halluin, Pauline;
- Matignon, Marie;
- Maillot, François;
- Ly, Kim‐Heang;
- Besson, Gérard;
- Willems, Marjolaine;
- Labombarda, Fabien;
- Masseau, Agathe;
- Lavigne, Christian;
- Lacombe, Didier;
- Maillard, Hélène;
- Lidove, Olivier
Publication type:
Article
T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 757, doi. 10.1002/jimd.12726
By:
- Walker, Melissa A.;
- Li, Shuqiang;
- Livak, Kenneth J.;
- Karaa, Amel;
- Wu, Catherine J.;
- Mootha, Vamsi K.
Publication type:
Article
Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 792, doi. 10.1002/jimd.12725
By:
- Al‐Saady, Murtadha L.;
- Galabova, Hristina;
- Schoenmakers, Daphne H.;
- Beerepoot, Shanice;
- Lindemans, Caroline;
- van Hasselt, Peter M.;
- van der Knaap, Marjo S.;
- Wolf, Nicole I.;
- Pouwels, Petra J. W.
Publication type:
Article
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 636, doi. 10.1002/jimd.12724
By:
- Feillet, François;
- Ficicioglu, Can;
- Lagler, Florian B.;
- Longo, Nicola;
- Muntau, Ania C.;
- Burlina, Alberto;
- Trefz, Friedrich K.;
- van Spronsen, Francjan J.;
- Arnoux, Jean‐Baptiste;
- Lindstrom, Kristin;
- Lilienstein, Joshua;
- Clague, Gillian E.;
- Rowell, Richard;
- Burton, Barbara K.
Publication type:
Article
A phenylalanine‐free recombinant nutritional protein for the dietary management of phenylketonuria.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 651, doi. 10.1002/jimd.12719
By:
- Mücke, Yvonne;
- Jablonka, Natalia;
- Rimann, Nicole;
- Grisch‐Chan, Hiu Man;
- Hoffmann, Bernhard;
- Schillberg, Stefan;
- Thöny, Beat;
- Rasche, Stefan
Publication type:
Article
The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 778, doi. 10.1002/jimd.12706
By:
- Groeschel, Samuel;
- Beerepoot, Shanice;
- Amedick, Lucas Bastian;
- Krӓgeloh‐Mann, Ingeborg;
- Li, Jing;
- Whiteman, David A. H.;
- Wolf, Nicole I.;
- Port, John D.
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 1, doi. 10.1002/jimd.12630
Publication type:
Article
Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 731, doi. 10.1002/jimd.12718
By:
- Guerra, Inês M. S.;
- Ferreira, Helena B.;
- Maurício, Tatiana;
- Pinho, Marisa;
- Diogo, Luísa;
- Moreira, Sónia;
- Goracci, Laura;
- Bonciarelli, Stefano;
- Melo, Tânia;
- Domingues, Pedro;
- Domingues, M. Rosário;
- Moreira, Ana S. P.
Publication type:
Article