OpenURL Connection Search

Select item for more details and to access through your institution.

Obituary for Professor Michael Beck (1947–2022).
Published in:
2023
By:
- Ries, Markus;
- Mengel, Eugen
Publication type:
Obituary
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
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
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
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
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
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
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
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
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
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
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
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
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

Found: 19