Works matching IS 21928312 AND DT 2024 AND VI 65 AND IP 3

Results: 7

Dietary management for pyridoxine-dependent epilepsy due to a-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 188, doi. 10.1002/jmd2.12418

By:

Dixon, Marjorie;
Millington, Chloe;
Bernstein, Laurie;
Coughlin II, Curtis R.;
Drumm, Morgan;
Gaughan, Sommer;
van Karnebeek, Clara D. M.;
van Wegberg, Annemiek M. J.

Publication type:

Article

Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 182, doi. 10.1002/jmd2.12417

By:

Spolador, Gustavo Marquezani;
Bueno, Clarissa;
Polastrini, Rita Tiziana Verardo;
Zoboli, Ivete;
Henrique, Ana Cristina;
Freitas, Elaine;
do Nascimento, Andréa Gislene;
Pugliese, Camila;
Kok, Fernando;
de Macedo Barbosa, Silvia Maria

Publication type:

Article

Oral ribose supplementation in dystroglycanopathy: A single case study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 171, doi. 10.1002/jmd2.12394

By:

Thewissen, R. M. J.;
Post, M. A.;
Maas, D. M.;
Veizaj, R.;
Wagenaar, I.;
Alsady, M.;
Kools, J.;
Bouman, K.;
Zweers, H.;
Meregalli, P. G.;
van der Kooi, A. J.;
van Doorn, P. A.;
Groothuis, J. T.;
Lefeber, D. J.;
Voermans, N. C.

Publication type:

Article

Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 156, doi. 10.1002/jmd2.12421

By:

Gold, Jessica I.;
Stefanatos, Arianna K.;
Fraser, Jamie L.;
Vanderver, Adeline;
Cuddapah, Sanmati

Publication type:

Article

Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 144, doi. 10.1002/jmd2.12419

By:

Singh, Emily;
Young-In Chi;
Kopesky, Jessica;
Zimmerman, Michael;
Urrutia, Raul;
Basel, Donald;
Schwoerer, Jessica Scott

Publication type:

Article

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 135, doi. 10.1002/jmd2.12415

By:

Bosnyak, Inez;
Sadek, Mustafa;
Ranatunga, Wasantha;
Kozicz, Tamas;
Morava, Eva

Publication type:

Article

Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

Published in:

Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 3, p. 163, doi. 10.1002/jmd2.12422

By:

Nguyen, Alexandre;
Deshayes, Samuel;
Nowoczyn, Marie;
Imbard, Apolline;
Mansour-Hendili, Lamisse;
Cesbron, Alexandre;
Benoist, Jean François;
Schiff, Manuel

Publication type:

Article