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Orphanet Journal of Rare Diseases|April 17, 2019
Vascular suture line wrapping for Aortoiliac anastomoses following open surgical repair of Infrarenal Behçet's Aortoiliac aneurysmsAhmed Mousa, Ibrahim Hanbal, Alaa Sharabi, et al.
Orphanet Journal of Rare Diseases|March 25, 2022
Systemic therapy of necrobiotic xanthogranuloma: a systematic reviewLisa Steinhelfer, Thomas Kühnel, Herbert Jägle, et al.
Orphanet Journal of Rare Diseases|March 6, 2022
White matter is increased in the brains of adults with neurofibromatosis 1Su Wang, Jan M Friedman, Per Suppa, et al.
Orphanet Journal of Rare Diseases|March 1, 2022
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patientsLaura Pena-Couso, María Ercibengoa, Fátima Mercadillo, et al.
Orphanet Journal of Rare Diseases|May 4, 2019
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)Nicole M Muschol, Daniel Pape, Kai Kossow, et al.
Orphanet Journal of Rare Diseases|September 20, 2018
Burden of albinism: development and validation of a burden assessment toolFanny Morice-Picard, Charles Taïeb, Aurelie Marti, et al.
Orphanet Journal of Rare Diseases|January 9, 2023
Continuing a search for a diagnosis: the impact of adolescence and family dynamicsIlana M Miller, Beverly M Yashar, , et al.
Orphanet Journal of Rare Diseases|January 13, 2023
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformationsNicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, et al.
Orphanet Journal of Rare Diseases|December 17, 2022
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 RegistryCaroline R Stanclift, Selina S Dwight, Kevin Lee, et al.
Orphanet Journal of Rare Diseases|April 24, 2015
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug developmentEmma Heslop, Cristina Csimma, Volker Straub, et al.
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