Works matching IS 01418955 AND DT 2023 AND VI 46 AND IP 1

Results: 19

Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 1, doi. 10.1002/jimd.12576

By:

Quelhas, Dulce;
Jaeken, Jaak;
Azevedo, Luisa

Publication type:

Article

Obituary for Dr. Lawrence "Larry" Sweetman, PhD, ABMG (1942–2022).

Published in:

2023

By:

Barshop, Bruce;
Gibson, Mike;
Jakobs, Cornelis;
Arning, Erland

Publication type:

Obituary

Obituary for Professor Michael Beck (1947–2022).

Published in:

2023

By:

Ries, Markus;
Mengel, Eugen

Publication type:

Obituary

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571

By:

Albersen, Monique;
van der Beek, Samantha L.;
Dijkstra, Inge M. E.;
Alders, Mariëlle;
Barendsen, Rinse W.;
Bliek, Jet;
Boelen, Anita;
Ebberink, Merel S.;
Ferdinandusse, Sacha;
Goorden, Susan M. I.;
Heijboer, Annemieke C.;
Jansen, Mandy;
Jaspers, Yorrick R. J.;
Metgod, Ingrid;
Salomons, Gajja S.;
Vaz, Frédéric M.;
Verschoof‐Puite, Rendelien K.;
Visser, Wouter F.;
Dekkers, Eugènie;
Engelen, Marc

Publication type:

Article

Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 28, doi. 10.1002/jimd.12570

By:

Subramanian, Chitra;
Frank, Matthew W.;
Tangallapally, Rajendra;
Yun, Mi‐Kyung;
White, Stephen W.;
Lee, Richard E.;
Rock, Charles O.;
Jackowski, Suzanne

Publication type:

Article

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 129, doi. 10.1002/jimd.12569

By:

Crowther, Lisa M.;
Poms, Martin;
Zandl‐Lang, Martina;
Abela, Lucia;
Hartmann, Hans;
Seiler, Michelle;
Mathis, Déborah;
Plecko, Barbara

Publication type:

Article

Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 55, doi. 10.1002/jimd.12568

By:

Belanger, Adam J.;
Gefteas, Estelle;
Przybylska, Malgorzata;
Geller, Sarah;
Anarat‐Cappillino, Gülbenk;
Kloss, Alla;
Yew, Nelson S.

Publication type:

Article

Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 143, doi. 10.1002/jimd.12567

By:

Miyajima, Takashi;
Saito, Ryo;
Yanagisawa, Hiroko;
Igarashi, Miki;
Wu, Chen;
Iwamoto, Takeo;
Eto, Yoshikatsu

Publication type:

Article

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 92, doi. 10.1002/jimd.12565

By:

Elsharkawi, Ibrahim;
Wongkittichote, Parith;
Daniel, Earnest James Paul;
Starosta, Rodrigo Tzovenos;
Ueda, Keisuke;
Ng, Bobby G.;
Freeze, Hudson H.;
He, Miao;
Shinawi, Marwan

Publication type:

Article

The role and control of arginine levels in arginase 1 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 3, doi. 10.1002/jimd.12564

By:

Diaz, George A.;
Bechter, Mark;
Cederbaum, Stephen D.

Publication type:

Article

Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 15, doi. 10.1002/jimd.12563

By:

Mütze, Ulrike;
Garbade, Sven F.;
Gleich, Florian;
Lindner, Martin;
Freisinger, Peter;
Hennermann, Julia B.;
Thimm, Eva;
Gramer, Gwendolyn;
Posset, Roland;
Krämer, Johannes;
Grünert, Sarah C.;
Hoffmann, Georg F.;
Kölker, Stefan

Publication type:

Article

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 43, doi. 10.1002/jimd.12562

By:

Veys, Koenraad;
Zadora, Ward;
Hohenfellner, Katharina;
Bockenhauer, Detlef;
Janssen, Mirian C. H.;
Niaudet, Patrick;
Servais, Aude;
Topaloglu, Rezan;
Besouw, Martine;
Novo, Robert;
Haffner, Dieter;
Kanzelmeyer, Nele;
Pape, Lars;
Wühl, Elke;
Harms, Erik;
Awan, Atif;
Sikora, Przemyslaw;
Ariceta, Gema;
van den Heuvel, Bert;
Levtchenko, Elena

Publication type:

Article

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 101, doi. 10.1002/jimd.12560

By:

Canibano‐Fraile, Rodrigo;
Harlaar, Laurike;
dos Santos, Carlos A.;
Hoogeveen‐Westerveld, Marianne;
Demmers, Jeroen A. A.;
Snijders, Tim;
Lijnzaad, Philip;
Verdijk, Robert M.;
van der Beek, Nadine A. M. E.;
van Doorn, Pieter A.;
van der Ploeg, Ans T.;
Brusse, Esther;
Pijnappel, W. W. M. Pim;
Schaaf, Gerben J.

Publication type:

Article

N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 76, doi. 10.1002/jimd.12557

By:

Budhraja, Rohit;
Saraswat, Mayank;
De Graef, Diederik;
Ranatunga, Wasantha;
Ramarajan, Madan G.;
Mousa, Jehan;
Kozicz, Tamas;
Pandey, Akhilesh;
Morava, Eva

Publication type:

Article

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 66, doi. 10.1002/jimd.12554

By:

Peters, Tessa M. A.;
Merx, Jona;
Kooijman, Pieter C.;
Noga, Marek;
de Boer, Siebolt;
van Gemert, Loes A.;
Salden, Guido;
Engelke, Udo F. H.;
Lefeber, Dirk J.;
van Outersterp, Rianne E.;
Berden, Giel;
Boltje, Thomas J.;
Artuch, Rafael;
Pías‐Peleteiro, Leticia;
García‐Cazorla, Ángeles;
Barić, Ivo;
Thöny, Beat;
Oomens, Jos;
Martens, Jonathan;
Wevers, Ron A.

Publication type:

Article

CORRIGENDUM.

Published in:: Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 157, doi. 10.1002/jimd.12542
Publication type:: Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 1, doi. 10.1002/jimd.12515
Publication type:: Article

Erratum.

Published in:: 2023
Publication type:: Correction Notice

Erratum.

Published in:: 2023
Publication type:: Correction Notice