Works matching IS 21928312 AND DT 2022 AND VI 63 AND IP 3

Results: 10

Opportunities and challenges in machine learning‐based newborn screening—A systematic literature review.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 250, doi. 10.1002/jmd2.12285

By:

Zaunseder, Elaine;
Haupt, Saskia;
Mütze, Ulrike;
Garbade, Sven F.;
Kölker, Stefan;
Heuveline, Vincent

Publication type:

Article

Glycogen storage disease type IIIa in pregnant women: A guide to management.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 216, doi. 10.1002/jmd2.12282

By:

Beneru, Demi;
Tchan, Michel C.;
Billmore, Kate;
Nayyar, Roshini

Publication type:

Article

High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 211, doi. 10.1002/jmd2.12281

By:

Towns, Cindy;
Balakrishnan, Sobana;
Florkowski, Chris;
Davies, Andrew;
Barrington‐Ward, Elaine

Publication type:

Article

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 240, doi. 10.1002/jmd2.12280

By:

Akesson, Lauren S.;
Rius, Rocio;
Brown, Natasha J.;
Rosenbaum, Jeremy;
Donoghue, Sarah;
Stormon, Michael;
Chai, Charmaine;
Bordador, Esmeralda;
Guo, Yiran;
Hakonarson, Hakon;
Compton, Alison G.;
Thorburn, David R.;
Amarasekera, Sumudu;
Marum, Justine;
Monaco, Alisha;
Lee, Crystle;
Chong, Belinda;
Lunke, Sebastian;
Stark, Zornitza;
Christodoulou, John

Publication type:

Article

Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency.

Published in:

2022

By:

Grünert, Sarah Catharina;
Eckenweiler, Matthias;
Spiekerkoetter, Ute

Publication type:

Case Study

Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 231, doi. 10.1002/jmd2.12277

By:

Moarefian, Shirin;
Zamani, Mahdi;
Rahmanifar, Ali;
Behnam, Babak;
Zaman, Talieh

Publication type:

Article

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Published in:

2022

By:

Ørstavik, Kristin;
Arntzen, Kjell Arne;
Mathisen, Per;
Backe, Paul Hoff;
Tangeraas, Trine;
Rasmussen, Magnhild;
Kristensen, Erle;
Van Ghelue, Marijke;
Jonsrud, Christoffer;
Bliksrud, Yngve Thomas

Publication type:

Case Study

Long‐term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 221, doi. 10.1002/jmd2.12272

By:

Davison, Andrew S.;
Hughes, Gin;
Harrold, Joanne A.;
Clarke, Pam;
Griffin, Rebecca;
Ranganath, Lakshminarayan R.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 191, doi. 10.1002/jmd2.12228
Publication type:: Article

Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 199, doi. 10.1002/jmd2.12278

By:

Kaczor, Magdalena;
Greczan, Milena;
Kierus, Karolina;
Ehmke vel Emczyńska‐Seliga, Ewa;
Ciara, Elżbieta;
Piątosa, Barbara;
Rokicki, Dariusz;
Książyk, Janusz;
Wesół‐Kucharska, Dorota

Publication type:

Article