Works matching IS 01418955 AND DT 2022 AND VI 45 AND IP 2

Results: 24

Quo vadis now: Beyond genomics to an era of personalised medicine.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 129, doi. 10.1002/jimd.12487

By:

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

Publication type:

Article

Biomarkers for drug development in propionic and methylmalonic acidemias.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 132, doi. 10.1002/jimd.12478

By:

Longo, Nicola;
Sass, Jörn Oliver;
Jurecka, Agnieszka;
Vockley, Jerry

Publication type:

Article

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 292, doi. 10.1002/jimd.12476

By:

van Esveld, Selma L.;
Rodenburg, Richard J.;
Al‐Murshedi, Fathiya;
Al‐Ajmi, Eiman;
Al‐Zuhaibi, Sana;
Huynen, Martijn A.;
Spelbrink, Johannes N.

Publication type:

Article

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 192, doi. 10.1002/jimd.12473

By:

Kluck, Rika;
Müller, Sophia;
Jagodzinski, Celina;
Hohenfellner, Katharina;
Büscher, Anja;
Kemper, Markus J.;
Oh, Jun;
Billing, Heiko;
Thumfart, Julia;
Weber, Lutz T.;
Acham‐Roschitz, Birgit;
Arbeiter, Klaus;
Tönshoff, Burkhard;
Hagenberg, Martina;
Kanzelmeyer, Nele;
Pavičić, Leo;
Haffner, Dieter;
Zivicnjak, Miroslav

Publication type:

Article

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 203, doi. 10.1002/jimd.12471

By:

Daenzer, Jennifer M. I.;
Rasmussen, Shauna A.;
Patel, Sneh;
McKenna, James;
Fridovich‐Keil, Judith L.

Publication type:

Article

Creatine transporter–deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 278, doi. 10.1002/jimd.12470

By:

Duran‐Trio, Lara;
Fernandes‐Pires, Gabriella;
Grosse, Jocelyn;
Soro‐Arnaiz, Ines;
Roux‐Petronelli, Clothilde;
Binz, Pierre‐Alain;
De Bock, Katrien;
Cudalbu, Cristina;
Sandi, Carmen;
Braissant, Olivier

Publication type:

Article

Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 340, doi. 10.1002/jimd.12467

By:

Guffon, Nathalie;
Chowdary, Pratima;
Teles, Elisa Leão;
Hughes, Derralynn;
Hennermann, Julia B.;
Huot‐Marchand, Philippe;
Faudot‐Vernier, Elodie;
Lacombe, Olivier;
Fiquet, Anne;
Richard, Marie‐Paule;
Abitbol, Jean‐Louis;
Tallandier, Mireille;
Hendriksz, Christian J.

Publication type:

Article

Obituary for Charles Rider Roe, MD.

Published in:

2022

By:

Kahler, Stephen G.;
Vockley, Jerry

Publication type:

Obituary

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 183, doi. 10.1002/jimd.12464

By:

Vill, Katharina;
Müller‐Felber, Wolfgang;
Landfarth, Timotheus;
Köppl, Christian;
Herzig, Nadine;
Knerr, Christine;
Holla, Heike;
Steidle, Günther;
Harms, Erik;
Hohenfellner, Katharina

Publication type:

Article

Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 248, doi. 10.1002/jimd.12463

By:

Savvidou, Antri;
Ivarsson, Liz;
Naess, Karin;
Eklund, Erik A.;
Lundgren, Johan;
Dahlin, Maria;
Frithiof, Deborah;
Sofou, Kalliopi;
Darin, Niklas

Publication type:

Article

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 264, doi. 10.1002/jimd.12462

By:

Jiang, Huafang;
Alahmad, Ahmad;
Fu, Song;
Fu, Xiaoling;
Liu, Zhimei;
Han, Xiaodi;
Li, Lanlan;
Song, Tianyu;
Xu, Manting;
Liu, Shanshan;
Wang, Junling;
Albash, Buthaina;
Alaqeel, Ahmad;
Catalina, Vasilescu;
Prokisch, Holger;
Taylor, Robert W.;
McFarland, Robert;
Fang, Fang

Publication type:

Article

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 318, doi. 10.1002/jimd.12461

By:

Briso‐Montiano, Alvaro;
Del Caño‐Ochoa, Francisco;
Vilas, Alicia;
Velázquez‐Campoy, Adrián;
Rubio, Vicente;
Pérez, Belén;
Ramón‐Maiques, Santiago

Publication type:

Article

Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 308, doi. 10.1002/jimd.12457

By:

Keller, Jennifer L.;
Eloyan, Ani;
Raymond, Gerald V.;
Fatemi, Ali;
Zackowski, Kathleen M.

Publication type:

Article

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 169, doi. 10.1002/jimd.12454

By:

Kaczmarek, Alexander Tobias;
Bender, Daniel;
Gehling, Titus;
Kohl, Joshua Benedict;
Daimagüler, Hülya‐Sevcan;
Santamaria‐Araujo, José Angel;
Liebau, Max Christoph;
Koy, Anne;
Cirak, Sebahattin;
Schwarz, Guenter

Publication type:

Article

Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 215, doi. 10.1002/jimd.12452

By:

Gorce, Magali;
Lebigot, Elise;
Arion, Alina;
Brassier, Anaïs;
Cano, Aline;
De Lonlay, Pascale;
Feillet, François;
Gay, Claire;
Labarthe, François;
Nassogne, Marie‐Cécile;
Roche, Sandrine;
Roubertie, Agathe;
Sacaze, Elise;
Touati, Guy;
Broué, Pierre

Publication type:

Article

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 235, doi. 10.1002/jimd.12451

By:

Mathis, Tamara;
Poms, Martin;
Köfeler, Harald;
Gautschi, Matthias;
Plecko, Barbara;
Baumgartner, Matthias R.;
Hochuli, Michel

Publication type:

Article

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 353, doi. 10.1002/jimd.12450

By:

Lehmann, Vivian;
Schene, Imre F.;
Ardisasmita, Arif I.;
Liv, Nalan;
Veenendaal, Tineke;
Klumperman, Judith;
van der Doef, Hubert P. J.;
Verkade, Henkjan J.;
Verstegen, Monique M. A.;
van der Laan, Luc J. W.;
Jans, Judith J. M.;
Verhoeven‐Duif, Nanda M.;
van Hasselt, Peter M.;
Nieuwenhuis, Edward E. S.;
Spee, Bart;
Fuchs, Sabine A.

Publication type:

Article

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 157, doi. 10.1002/jimd.12448

By:

Kripps, Kimberly A.;
Sremba, Leighann;
Larson, Austin A.;
Van Hove, Johan L.K.;
Nguyen, Hoanh;
Wright, Erica L.;
Mirsky, David M.;
Watkins, David;
Rosenblatt, David S.;
Ketteridge, David;
Berry, Susan A.;
McCandless, Shawn E.;
Baker, Peter R.

Publication type:

Article

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 223, doi. 10.1002/jimd.12446

By:

Vieira, Päivi;
Nagy, Irina I.;
Rahikkala, Elisa;
Väisänen, Marja‐Leena;
Latva, Katariina;
Kaunisto, Kari;
Valmari, Pekka;
Keski‐Filppula, Riikka;
Haanpää, Maria K.;
Sidoroff, Virpi;
Miettinen, Päivi J.;
Arkkola, Tuula;
Ojaniemi, Marja;
Nuutinen, Matti;
Uusimaa, Johanna;
Myllynen, Päivi

Publication type:

Article

β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 334, doi. 10.1002/jimd.12444

By:

Wada, Yoichi;
Arai‐Ichinoi, Natsuko;
Kikuchi, Atsuo;
Kure, Shigeo

Publication type:

Article

Patents vs patients 1‐0: The case of chenodeoxycholic acid.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 377, doi. 10.1002/jimd.12443

By:

Briké, Sarah Marie;
Meersseman, Wouter;
Cassiman, David

Publication type:

Article

100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 144, doi. 10.1002/jimd.12442

By:

Ramoser, Gabriele;
Caferri, Federica;
Radlinger, Bernhard;
Brunner‐Krainz, Michaela;
Herbst, Sybille;
Huemer, Martina;
Hufgard‐Leitner, Miriam;
Kircher, Susanne G.;
Konstantopoulou, Vassiliki;
Löscher, Wolfgang;
Möslinger, Dorothea;
Plecko, Barbara;
Spenger, Johannes;
Stulnig, Thomas;
Sunder‐Plassmann, Gere;
Wortmann, Saskia;
Scholl‐Bürgi, Sabine;
Karall, Daniela

Publication type:

Article

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 366, doi. 10.1002/jimd.12441

By:

Machiraju, Pranav;
Degtiarev, Vlad;
Patel, Dhwani;
Hazari, Hassan;
Lowry, R. Brian;
Bedard, Tanya;
Sinasac, David;
Brundler, Marie‐Anne;
Greenway, Steven C.;
Khan, Aneal

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 1, doi. 10.1002/jimd.12396
Publication type:: Article