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Orphanet Journal of Rare Diseases|July 3, 2016
TRNT1 deficiency: clinical, biochemical and molecular genetic featuresYehani Wedatilake, Rojeen Niazi, Elisa Fassone, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
Immune cell phenotype and functional defects in Netherton syndromeElina Eränkö, Mette Ilander, Mirja Tuomiranta, et al.
Orphanet Journal of Rare Diseases|December 8, 2018
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case historiesJohannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, et al.
Orphanet Journal of Rare Diseases|March 28, 2018
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhoodMeike Hengst, Lutz Naehrlich, Poornima Mahavadi, et al.
Orphanet Journal of Rare Diseases|November 10, 2019
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescentsNina A Zeltner, Mendy M Welsink-Karssies, Markus A Landolt, et al.
Orphanet Journal of Rare Diseases|November 10, 2019
The effect of impulsivity and inhibitory control deficits in the saccadic behavior of premanifest Huntington's disease individualsFilipa Júlio, Gina Caetano, Cristina Januário, et al.
Orphanet Journal of Rare Diseases|December 14, 2019
Expanding the clinical and genetic spectrum of Heimler syndromeFeng-Juan Gao, Fang-Yuan Hu, Ping Xu, et al.
Orphanet Journal of Rare Diseases|January 22, 2020
A study of voice and non-voice processing in Prader-Willi syndromeKuzma Strenilkov, Jimmy Debladis, Juliette Salles, et al.
Orphanet Journal of Rare Diseases|December 21, 2019
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelinesM M Hitzert, S N van der Crabben, G Baldewsingh, et al.
Orphanet Journal of Rare Diseases|May 16, 2022
A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients' and caregivers' perspectivesGaik Siew Ch'ng, Karina Koh, Azlina Ahmad-Annuar, et al.
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