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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
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
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

Found: 10