Works matching IS 01418955 AND DT 2022 AND VI 45 AND IP 3

Results: 24

Lost in translation—Challenges in drug development for inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 381, doi. 10.1002/jimd.12501

By:

Lachmann, Robin H.;
Patterson, Marc C.;
Sirrs, Sandra

Publication type:

Article

CDG or not CDG.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 383, doi. 10.1002/jimd.12498

By:

Freeze, Hudson H.;
Jaeken, Jaak;
Matthijs, Gert

Publication type:

Article

Obituary for Claude Bachmann, MD (1941–2022).

Published in:

2022

By:

Batshaw, Mark L.;
Braissant, Olivier;
Dionisi‐Vici, Carlo;
Steinmann, Beat;
Superti‐Furga, Andrea

Publication type:

Obituary

Delineating the epilepsy phenotype of NGLY1 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 571, doi. 10.1002/jimd.12494

By:

Levy, Rebecca J.;
Frater, Christina H.;
Gallentine, William B.;
Phillips, Jennifer M.;
Ruzhnikov, Maura R.

Publication type:

Article

Inborn errors of metabolism and their impact in paediatric dentistry.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 417, doi. 10.1002/jimd.12493

By:

Hirst, Lorna;
Chakrapani, Anupam;
Mubeen, Suhaym

Publication type:

Article

Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 529, doi. 10.1002/jimd.12492

By:

D'Annibale, Olivia M.;
Koppes, Erik A.;
Sethuraman, Meena;
Bloom, Kaitlyn;
Mohsen, Al‐Walid;
Vockley, Jerry

Publication type:

Article

Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 593, doi. 10.1002/jimd.12491

By:

Yi, Mengni;
Wang, Yu;
Gao, Xiaolan;
Han, Lianshu;
Qiu, Wenjuan;
Gu, Xuefan;
Maegawa, Gustavo H. B.;
Zhang, Huiwen

Publication type:

Article

Recovery of enzyme activity in biotinidase deficient individuals during early childhood.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 605, doi. 10.1002/jimd.12490

By:

Forny, Patrick;
Wicht, Andrea;
Rüfenacht, Véronique;
Cremonesi, Alessio;
Häberle, Johannes

Publication type:

Article

Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 621, doi. 10.1002/jimd.12489

By:

Sumi‐Ichinose, Chiho;
Suganuma, Yui;
Kano, Taiki;
Ikemoto, Kazuhisa;
Ihira, Noriko;
Ichinose, Hiroshi;
Kondo, Kazunao

Publication type:

Article

Molybdenum cofactor deficiency: A natural history.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 456, doi. 10.1002/jimd.12488

By:

Spiegel, Ronen;
Schwahn, Bernd C.;
Squires, Liza;
Confer, Nils

Publication type:

Article

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486

By:

Sasarman, Florin;
Ferdinandusse, Sacha;
Sinasac, David S.;
Fung, Ernest;
Sparkes, Rebecca;
Reeves, Melanie;
Rombough, Catherine;
Sass, Jörn Oliver;
Voit, Renate;
Ruiter, Jos P. N.;
Koster, Janet;
Waterham, Hans R.;
Pasquini, Elisabetta;
Donati, Maria A.;
Marquardt, Thorsten;
Wanders, Ronald J. A.;
Al‐Hertani, Walla

Publication type:

Article

Ppt1‐deficiency dysregulates lysosomal Ca<sup>++</sup> homeostasis contributing to pathogenesis in a mouse model of CLN1 disease.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 635, doi. 10.1002/jimd.12485

By:

Mondal, Avisek;
Appu, Abhilash P.;
Sadhukhan, Tamal;
Bagh, Maria B.;
Previde, Rafael M.;
Sadhukhan, Sriparna;
Stojilkovic, Stanko;
Liu, Aiyi;
Mukherjee, Anil B.

Publication type:

Article

No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 502, doi. 10.1002/jimd.12484

By:

Løkken, Nicoline;
Storgaard, Jesper H.;
Revsbech, Karoline L.;
Voermans, Nicol C.;
Van Hall, Gerrit;
Vissing, John;
Ørngreen, Mette C.

Publication type:

Article

Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC‐E1 structure and function.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 557, doi. 10.1002/jimd.12477

By:

Ducich, Nicole H.;
Mears, Jason A.;
Bedoyan, Jirair K.

Publication type:

Article

A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 406, doi. 10.1002/jimd.12482

By:

Hassall, Sadie;
Smith, Debbie Michelle;
Rust, Stewart;
Wittkowski, Anja

Publication type:

Article

Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 584, doi. 10.1002/jimd.12481

By:

Majer, Filip;
Asfaw, Befekadu;
Kuchař, Ladislav;
Mušálková, Dita;
Steiner‐Mrázová, Lenka;
Dobrovolný, Robert;
Ledvinová, Jana;
Hřebíček, Martin

Publication type:

Article

Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 541, doi. 10.1002/jimd.12480

By:

Karunanidhi, Anuradha;
Van't Land, Clinton;
Rajasundaram, Dhivyaa;
Grings, Mateus;
Vockley, Jerry;
Mohsen, Al‐Walid

Publication type:

Article

No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 517, doi. 10.1002/jimd.12479

By:

Storgaard, Jesper H.;
Løkken, Nicoline;
Madsen, Karen L.;
Voermans, Nicol C.;
Laforêt, Pascal;
Nadaj‐Pakleza, Aleksandra;
Tard, Céline;
van Hall, Gerrit;
Vissing, John;
Ørngreen, Mette C.

Publication type:

Article

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 431, doi. 10.1002/jimd.12483

By:

Kido, Jun;
Häberle, Johannes;
Sugawara, Keishin;
Tanaka, Toju;
Nagao, Masayoshi;
Sawada, Takaaki;
Wada, Yoichi;
Numakura, Chikahiko;
Murayama, Kei;
Watanabe, Yoriko;
Kojima‐Ishii, Kanako;
Sasai, Hideo;
Kosugiyama, Kiyotaka;
Nakamura, Kimitoshi

Publication type:

Article

Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 386, doi. 10.1002/jimd.12475

By:

Crefcoeur, Loek L.;
Visser, Gepke;
Ferdinandusse, Sacha;
Wijburg, Frits A.;
Langeveld, Mirjam;
Sjouke, Barbara

Publication type:

Article

Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 470, doi. 10.1002/jimd.12474

By:

Mao, Xia;
Chen, Helen;
Lin, Allen Z.;
Kim, Sun;
Burczynski, Michael E.;
Na, Erqian;
Halasz, Gabor;
Sleeman, Mark W.;
Murphy, Andrew J.;
Okamoto, Haruka;
Cheng, Xiping

Publication type:

Article

Is the brain involved in patients with late‐onset Pompe disease?

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 493, doi. 10.1002/jimd.12469

By:

van den Dorpel, Jan J. A.;
van der Vlugt, Willemijn M. C.;
Dremmen, Marjolein H. G.;
Muetzel, Ryan;
van den Berg, Esther;
Hest, Roos;
de Kriek, Joni;
Brusse, Esther;
van Doorn, Pieter A.;
van der Ploeg, Ans T.;
van den Hout, Johanna M. P.;
van der Beek, Nadine A. M. E.

Publication type:

Article

AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 481, doi. 10.1002/jimd.12468

By:

Brophy, Megan L.;
Stansfield, John C.;
Ahn, Youngwook;
Cheng, Seng H.;
Murphy, John E.;
Bell, Robert D.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 1, doi. 10.1002/jimd.12397
Publication type:: Article