Works matching IS 26330040 AND DT 2023 AND VI 4

Results: 17

The Rare Diseases Clinical Research Network: a model for clinical trial readiness.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231219272

By:

Lumsden, Joanne M.;
Urv, Tiina K.

Publication type:

Article

The pharmacological treatment of granulomatosis with polyangiitis: a review of clinical trials registered in clinicaltrials.gov and the International Clinical Trials Registry Platform.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231213888

By:

Sultana, Janet;
Camilleri, Nikita;
Crisafulli, Salvatore;
Borg, John Joseph;
Spagnol, Silvan;
Tillati, Silvia;
Borg, Joseph

Publication type:

Article

Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231204643

By:

Feleus, Stephanie;
van der Lee, Maaike;
Swen, Jesse J.;
Roos, Raymund A. C.;
de Bot, Susanne T.

Publication type:

Article

26th Annual Symposium of the United Mitochondrial Disease Foundation -Mitochondrial Medicine 2023 – Abstracts.

Published in:: 2023
Publication type:: Abstract

Case report on the use of canakinumab for treatment of recurrent fevers and proteinuria in refractory systemic lupus erythematosus.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231191141

By:

Yavari, Kimia;
Grisanti, Joseph

Publication type:

Article

A multidisciplinary approach to treating a unique case of recurrent metastatic thymic carcinoma: case report.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231190661

By:

Wang, Carol;
Erick Elkowitz, David;
Esposito, Michael John;
Shah, Rakesh Dinesh;
Tannous, Henry;
Barilla-Labarca, Maria-Louise;
Seetharamu, Nagashree

Publication type:

Article

Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231184484

By:

Faria, Iwens Moreira de;
Souza, Augusto Machado de;
Júnior, Luiz Rodrigues Pereira;
Leite, Gabriel Gomes Vieira Ribeiro

Publication type:

Article

The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231188979

By:

Beaverson, Katherine L.;
Julkowska, Daria;
Letinturier, Mary Catherine V.;
Aartsma-Rus, Annemieke;
Austin, Jennifer;
Bueren, Juan;
Frost, Simon;
Hamamura, Misako;
Larkindale, Jane;
LaRosa, Greg;
Magenheim, Rita;
Merico, Annamaria;
Gerdina Pasmooij, Anna Maria;
Pirard, Vinciane;
Ekow Thomford, Nicholas;
Wada, Michihiko;
Wong-Rieger, Durhane;
Hartman, Adam L.

Publication type:

Article

Toward representative genomic research: the children's rare disease cohorts experience.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231181406

By:

Frazier, Zoë J.;
Brown, Eurnestine;
Rockowitz, Shira;
Lee, Ted;
Zhang, Bo;
Sveden, Abigail;
Chamberlin, Nancy L.;
Dies, Kira A.;
Poduri, Annapurna;
Sliz, Piotr;
Chopra, Maya

Publication type:

Article

Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers' journey.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231180895

By:

Chehade, Mirna;
Furuta, Glenn;
Klion, Amy;
Abonia, J Pablo;
Aceves, Seema;
Bose, Paroma;
Collins, Margaret H.;
Davis, Carla;
Dellon, Evan S.;
Eickel, Grant;
Falk, Gary;
Gupta, Sandeep;
Hiremath, Girish;
Howard, Amari;
Jensen, Elizabeth T.;
Kesh, Susamita;
Khoury, Paneez;
Kocher, Kendra;
Kodroff, Ellyn;
Kyle, Shay

Publication type:

Article

Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected!

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231178321

By:

Kenani, Mona;
Babgi, Rafaa;
Bakri, Sultan

Publication type:

Article

A novel case of homozygous PAX1 mutation associated with hypoparathyroidism.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231158776

By:

Hamel, Benjamin L.;
Kumar, Seema;
Heidenreich, Leah;
Joshi, Avni;
DaSilva, Christiana;
Asumda, Faizal Z.

Publication type:

Article

Emerging roles and opportunities for rare disease patient advocacy groups.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231164425

By:

Patterson, Amy M.;
O'Boyle, Megan;
VanNoy, Grace E.;
Dies, Kira A.

Publication type:

Article

Successful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231154283

By:

Haria, Pankti;
Kedage, Vinayak;
Dalvi, Pradnya;
Sanghavi, Satyen;
Chandran, Parvathi

Publication type:

Article

Papilledema and retinopathy lead to diagnosis of IgA nephropathy: a case report.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231152957

By:

Kwan, James T.;
Lanzo, Erin;
Ramsey, David J.;
Kalra, Aarti;
Athappilly-Rolfe, Geetha K.

Publication type:

Article

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040221150269

By:

Radenkovic, Silvia;
Johnsen, Christin;
Schulze, Andreas;
Lail, Gurnoor;
Guilder, Laura;
Schwartz, Kaitlin;
Schultz, Matthew;
Mercimek-Andrews, Saadet;
Boyer, Suzanne;
Morava, Eva

Publication type:

Article

Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040221145945

By:

Asumda, Faizal Z.;
Kraker, Jessica A.;
Thomas, Sarah C.;
Maleszewski, Joseph;
Stone, Edwin M.;
Lanpher, Brendan C.;
Schimmenti, Lisa A.

Publication type:

Article