Works matching IS 01418955 AND DT 2023 AND VI 46 AND IP 4

Results: 22

Factors affecting activities of daily living among patients with Wilson disease.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 735, doi. 10.1002/jimd.12634

By:

Amemiya, Ayumi;
Asakura, Keiko;
Nishiwaki, Yuji;
Shimizu, Norikazu

Publication type:

Article

Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 543, doi. 10.1002/jimd.12638

By:

Shlobin, Nathan A.;
Hofmann, Katherine;
Keating, Robert F.;
Oluigbo, Chima O.

Publication type:

Article

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 554, doi. 10.1002/jimd.12636

By:

Manoli, Irini;
Gebremariam, Abigael;
McCoy, Samantha;
Pass, Alexandra R.;
Gagné, Jack;
Hall, Camryn;
Ferry, Susan;
Van Ryzin, Carol;
Sloan, Jennifer L.;
Sacchetti, Elisa;
Catesini, Giulio;
Rizzo, Cristiano;
Martinelli, Diego;
Spada, Marco;
Dionisi‐Vici, Carlo;
Venditti, Charles P.

Publication type:

Article

Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 634, doi. 10.1002/jimd.12633

By:

Vara, R.;
Pinon, M.;
Fratter, C.;
Hegarty, R.;
Hadzic, N.

Publication type:

Article

In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023).

Published in:

2023

By:

Levy, Harvey L.;
Sarkissian, Christineh N.

Publication type:

Obituary

Is it time to start to consider treating the liver in glutaric aciduria type 1?

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 539, doi. 10.1002/jimd.12623

By:

Houten, Sander;
Coughlin, Curtis R.

Publication type:

Article

Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 541, doi. 10.1002/jimd.12621

By:

Adant, Isabelle;
Yaplito‐Lee, Joy;
Kiss, Sharmila

Publication type:

Article

Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 537, doi. 10.1002/jimd.12620

By:

Rahman, Shamima;
Patterson, Marc;
Peters, Verena;
Morava, Eva;
Zschocke, Johannes;
Baumgartner, Matthias

Publication type:

Article

A mouse mutant deficient in both neuronal ceroid lipofuscinosis‐associated proteins CLN3 and TPP1.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 720, doi. 10.1002/jimd.12619

By:

Sleat, David E.;
Banach‐Petrosky, Whitney;
Larrimore, Katherine E.;
Nemtsova, Yuliya;
Wiseman, Jennifer A.;
Najafi, Allison;
Johnson, Dymonn;
Poole, Timothy A.;
Takahashi, Keigo;
Cooper, Jonathan D.;
Lobel, Peter

Publication type:

Article

Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 675, doi. 10.1002/jimd.12616

By:

Mantel, Ängla;
Vassiliou, Daphne;
Lissing, Mattias;
Stephansson, Olof;
Wahlin, Staffan;
Sardh, Eliane

Publication type:

Article

Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 662, doi. 10.1002/jimd.12612

By:

Stein, Penelope E.;
Edel, Yonatan;
Mansour, Razan;
Mustafa, Reem A.;
Sandberg, Sverre;
Aarsand, Aasne K.;
Anderson, Karl E.;
Badminton, Michael;
Balwani, Manisha;
Bonkovsky, Herbert L.;
Cappellini, Maria Domenica;
Cassiman, David;
Deybach, Jean‐Charles;
El Mikati, Ibrahim;
Gill, Liz;
Gouya, Laurent;
Harper, Pauline;
Hift, Richard;
Ivanova, Aneta;
Langendonk, Janneke G.

Publication type:

Article

Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 618, doi. 10.1002/jimd.12610

By:

Fukuda, Tokiko;
Ito, Tetsuya;
Hamazaki, Takashi;
Inui, Ayano;
Ishige, Mika;
Kagawa, Reiko;
Sakai, Norio;
Watanabe, Yoriko;
Kobayashi, Hironori;
Wasaki, Yosuke;
Taura, Junki;
Imamura, Yuki;
Tsukiuda, Tsutomu;
Nakamura, Kimitoshi

Publication type:

Article

Physical training and high‐protein diet improved muscle strength, parent‐reported fatigue, and physical quality of life in children with Pompe disease.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 605, doi. 10.1002/jimd.12607

By:

Scheffers, L. E.;
Somers, O. C.;
Dulfer, K.;
Dieleman, G. C.;
Walet, S.;
van der Giessen, L. J.;
van der Ploeg, A. T.;
van den Hout, J. M. P.;
van den Berg, L. E.

Publication type:

Article

Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 595, doi. 10.1002/jimd.12606

By:

Lika, Aglina;
Andrinopoulou, Eleni‐Rosalina;
van der Beek, Nadine A. M. E.;
Rizopoulos, Dimitris;
van der Ploeg, Ans T.;
Kruijshaar, Michelle E.

Publication type:

Article

Competitive, multi‐objective, and compartmented Flux Balance Analysis for addressing tissue‐specific inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 573, doi. 10.1002/jimd.12603

By:

Liu, Yanhua;
Westerhoff, Hans V.

Publication type:

Article

Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 705, doi. 10.1002/jimd.12602

By:

Guffon, Nathalie;
Konstantopoulou, Vassiliki;
Hennermann, Julia B.;
Muschol, Nicole;
Bruno, Irene;
Tummolo, Albina;
Ceravolo, Ferdinando;
Zardi, Giulia;
Ballabeni, Andrea;
Lund, Allan

Publication type:

Article

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 586, doi. 10.1002/jimd.12600

By:

Nielsen, Maja Risager;
Jørgensen, Christine;
Ahring, Kirsten;
Lund, Allan Meldgaard;
Ørngreen, Mette Cathrine

Publication type:

Article

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 695, doi. 10.1002/jimd.12598

By:

Miller, Bradley S.;
Fung, Ellen B.;
White, Klane K.;
Lund, Troy C.;
Harmatz, Paul;
Orchard, Paul J.;
Whitley, Chester B.;
Polgreen, Lynda E.

Publication type:

Article

Gene expression changes in Tay–Sachs disease begin early in fetal brain development.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 687, doi. 10.1002/jimd.12596

By:

Han, Sangwoo T.;
Hirt, Ashley;
Nicoli, Elena‐Raluca;
Kono, Mari;
Toro, Camilo;
Proia, Richard L.;
Tifft, Cynthia J.

Publication type:

Article

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 744, doi. 10.1002/jimd.12594

By:

Safran, Amit;
Proskorovski‐Ohayon, Regina;
Eskin‐Schwartz, Marina;
Yogev, Yuval;
Drabkin, Max;
Eremenko, Ekaterina;
Aharoni, Sarit;
Freund, Ofek;
Jean, Matan M.;
Agam, Nadav;
Hadar, Noam;
Loewenthal, Neta;
Staretz‐Chacham, Orna;
Birk, Ohad S.

Publication type:

Article

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 649, doi. 10.1002/jimd.12592

By:

Tuchmann‐Durand, Caroline;
Roda, Célina;
Renard, Perrine;
Mortamet, Guillaume;
Bérat, Claire‐Marine;
Altenburger, Lucile;
de Larauz, Marie Hug;
Thevenet, Eloise;
Cottart, Charles‐Henry;
Moulin, Florence;
Bouchereau, Juliette;
Brassier, Anais;
Arnoux, Jean‐Baptiste;
Schiff, Manuel;
Bednarek, Nathalie;
Lamireau, Delphine;
Garros, Alexa;
Mention, Karine;
Cano, Aline;
Finger, Lionel

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 1, doi. 10.1002/jimd.12518
Publication type:: Article