Works matching IS 21928312 AND DT 2023 AND VI 64 AND IP 2

Results: 13

Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant.

Published in:

2023

By:

Galderisi, Alfonso;
Kermorvant‐Duchemin, Elsa;
Daruich, Alejandra;
Bonnard, Adeline Alice;
Lapillonne, Alexandre;
Aubelle, Marie‐Stéphanie;
Perrella, Bruna;
Vial, Yoann;
Cave, Héléne;
Berdugo, Marianne;
Jarreau, Pierre‐Henri;
Polak, Michel;
Beltrand, Jacques

Publication type:

Case Study

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II.

Published in:

2023

By:

Eyskens, Margot;
Bruyndonckx, Luc;
Van Kuilenburg, André B. P.;
Eyskens, François

Publication type:

Case Study

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 167, doi. 10.1002/jmd2.12356

By:

Staklinski, Stephen J.;
Chang, Mario C.;
Ahrens‐Nicklas, Rebecca C.;
Kaur, Shagun;
Stefanatos, Arianna K.;
Dudenhausen, Elizabeth E.;
Merritt, Matthew E.;
Kilberg, Michael S.

Publication type:

Article

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 150, doi. 10.1002/jmd2.12355

By:

Howard, Caoimhe;
Dev‐Borman, Arundhati;
Stokes, John;
O'Rourke, Declan;
Gillespie, Ciara;
Twomey, Eilish;
Knerr, Ina;
Boruah, Ritma

Publication type:

Article

Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 146, doi. 10.1002/jmd2.12354

By:

Ma, Christopher D.;
Faust, Denise;
Bonkovsky, Herbert L.

Publication type:

Article

Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 138, doi. 10.1002/jmd2.12353

By:

Rudy, Natasha;
Aoki, Kazuhiro;
Ananth, Amitha;
Holloway, Lynda;
Skinner, Cindy;
Hurst, Anna;
Tiemeyer, Michael;
Steet, Richard

Publication type:

Article

Health‐related quality of life and patient‐reported outcome measurements in patients with cystinosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 199, doi. 10.1002/jmd2.12352

By:

Witt, Stefanie;
Kristensen, Kaja;
Hohenfellner, Katharina;
Quitmann, Julia

Publication type:

Article

Visual impairment in mucopolysaccharidosis VI.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 129, doi. 10.1002/jmd2.12351

By:

Magalhães, Augusto Monteiro;
Moleiro, Ana Filipa;
Rodrigues, Esmeralda;
Castro, Sérgio;
Fonseca, José;
Leão‐Teles, Elisa

Publication type:

Article

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1‐CDG).

Published in:

2023

By:

Altassan, Ruqaiah;
Albert‐Brotons, Dimpna C.;
Alowain, Mohammad;
Al‐Halees, Zohair;
Jaeken, Jaak;
Morava, Eva

Publication type:

Case Study

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 187, doi. 10.1002/jmd2.12349

By:

Borgwardt, Line Gutte;
Ceravolo, Ferdinando;
Zardi, Giulia;
Ballabeni, Andrea;
Lund, Allan Meldgaard

Publication type:

Article

First decade anniversary of the United Kingdom National Alkaptonuria Centre.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 212, doi. 10.1002/jmd2.12340

By:

Khedr, Milad;
Sireau, Nick;
Bou‐Gharios, George;
Gallagher, Jim A.;
Ranganath, Lakshminarayan R.

Publication type:

Article

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 180, doi. 10.1002/jmd2.12339

By:

Bernhardt, Isaac;
Glamuzina, Emma;
Ryder, Bryony;
Knoll, Detlef;
Heather, Natasha;
De Hora, Mark;
Webster, Dianne;
Wilson, Callum

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 121, doi. 10.1002/jmd2.12297
Publication type:: Article