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Orphanet Journal of Rare Diseases|January 24, 2020
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduriaSara Tucci
Orphanet Journal of Rare Diseases|January 24, 2020
Comparison of liver MRI R2(FerriScan®) VS liver MRI T2* as a measure of body iron load in a cohort of beta thalassaemia major patientsPadmapani Padeniya, Shirom Siriwardana, Dileepa Ediriweera, et al.
Orphanet Journal of Rare Diseases|November 15, 2019
mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models?Hao Cui, Lei Song, Changsheng Zhu, et al.
Orphanet Journal of Rare Diseases|January 19, 2020
Evaluation of retinal microvascular perfusion in hereditary angioedema: a case-control studyPaola Triggianese, Massimo Cesareo, Maria Domenica Guarino, et al.
Orphanet Journal of Rare Diseases|January 19, 2020
Education and information needs for physicians about rare diseases in SpainEnrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, et al.
Orphanet Journal of Rare Diseases|January 19, 2020
Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II studyEeva-Kaisa Schmidt, Tuuli Mustonen, Sari Kiuru-Enari, et al.
Orphanet Journal of Rare Diseases|April 2, 2020
Correction to: Immunological features of patients affected by Barraquer-Simons syndromeFernando Corvillo, Giovanni Ceccarini, Pilar Nozal, et al.
Orphanet Journal of Rare Diseases|March 27, 2020
Psychological functioning in children suspected for mitochondrial disease: the need for careKim F E van de Loo, José A E Custers, Saskia Koene, et al.
Orphanet Journal of Rare Diseases|March 8, 2020
Sickle cell disease induces resistance to cutaneous carcinogenesisBoutros Soutou, Patricia Senet, François Lionnet, et al.
Orphanet Journal of Rare Diseases|February 15, 2019
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosisMaryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, et al.
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