SUBJECTS : Rare Diseases | Genetics | Clinical Medicine | | Medicin
Therapeutic Advances in Rare Disease: 2021, vol: 2, issue:
- 1)- Aldo Aguirre-Camacho. Understanding the perspective of patients with pulmonary arterial hypertension: looking beyond health-related quality of life. Therapeutic advances in rare disease. 2021, 2: 2633004020986166
Cited : 0Read More - 2)- Sally Hayes, Siân R Morgan, Keith M Meek. Keratoconus: cross-linking the window of the eye. Therapeutic advances in rare disease. 2021, 2: 26330040211003573Cited : 4Read More
- 3)- William Frank Mawalla, Hamisa Iddy, Christine Aloyce Kindole, Ahlam Nasser, Anna Schuh. Wiskott-Aldrich syndrome with normal platelet volume in a low-income setting: a case report. Therapeutic advances in rare disease. 2021, 2: 26330040211009905Cited : 2Read More
- 4)- Tiina Urv. A challenging start but a bright future. Therapeutic advances in rare disease. 2021, 2: 26330040211010660Cited : 0Read More
- 5)- Suja Somanadhan, Hannah Bristow, Ellen Crushell, Gregory Pastores, Emma Nicholson, Thilo Kroll, Philip J Larkin, Aoife Brinkley. IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland. Therapeutic advances in rare disease. 2021, 2: 26330040211020764Cited : 2Read More
- 6)- Jennifer Langhinrichsen-Rohling, Chrystal L Lewis, Sean McCabe, Emma C Lathan, Gabrielle A Agnew, Candice N Selwyn, Margaret E Gigler. They've been BITTEN: reports of institutional and provider betrayal and links with Ehlers-Danlos Syndrome patients' current symptoms, unmet needs and healthcare expectations. Therapeutic advances in rare disease. 2021, 2: 26330040211022033Cited : 11Read More
- 7)- Aamir Bashir, Pramil Tiwari, Ajay Duseja. Enzyme replacement therapy in lysosomal acid lipase deficiency (LAL-D): a systematic literature review. Therapeutic advances in rare disease. 2021, 2: 26330040211026928Cited : 2Read More
- 8)- Wing Sum Vincent Ng, Matthieu Trigano, Thomas Freeman, Carmine Varrichio, Dinesh Kumar Kandaswamy, Ben Newland, Andrea Brancale, Malgorzata Rozanowska, Marcela Votruba. New avenues for therapy in mitochondrial optic neuropathies. Therapeutic advances in rare disease. 2021, 2: 26330040211029037Cited : 1Read More
- 9)- Jessica F Scherr, Charles Albright, Emily de Los Reyes. Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases. Therapeutic advances in rare disease. 2021, 2: 26330040211038564Cited : 2Read More
- 10)- Ratnakar Mishra, Benson S Chen, Prachi Richa, Patrick Yu-Wai-Man. Wolfram syndrome: new pathophysiological insights and therapeutic strategies. Therapeutic advances in rare disease. 2021, 2: 26330040211039518Cited : 3Read More
- 11)- Laurence Woollard, Richard Gorman, Dakota J Rosenfelt. Improving patient informed consent for haemophilia gene therapy: the case for change. Therapeutic advances in rare disease. 2021, 2: 26330040211047244Cited : 6Read More
- 12)- Haseeb Akram, Jose Antonio Aragon-Martin, Aman Chandra. Marfan syndrome and the eye clinic: from diagnosis to management. Therapeutic advances in rare disease. 2021, 2: 26330040211055738Cited : 1Read More
- 13)- Courtney D Thornburg. Etranacogene dezaparvovec for hemophilia B gene therapy. Therapeutic advances in rare disease. 2021, 2: 26330040211058896Cited : 4Read More
- 14)- Anna-Elisabeth Minder, Jasmin Barman-Aksoezen, Mathias Schmid, Elisabeth I Minder, Henryk Zulewski, Christoph E Minder, Xiaoye Schneider-Yin. Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study. Therapeutic advances in rare disease. 2021, 2: 26330040211065453Cited : 2Read More
- 15)- Philippa Harding, Dulce Lima Cunha, Mariya Moosajee. Animal and cellular models of microphthalmia. Therapeutic advances in rare disease. 2021, 2: 2633004021997447Cited : 1Read More
- 16)- Jay E Self, Helena Lee. Novel therapeutics in nystagmus: what has the genetics taught us so far? Therapeutic advances in rare disease. 2021, 2: 2633004021998714Cited : 1Read More
