المؤلفون: Bolton, Shaun C, Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C, Vanier, Marie T, Geberhiwot, Tarekegn

مصطلحات موضوعية: QU Biochemistry, QZ Pathology. Oncology, WB Practice of medicine, WL Nervous system. Neurology, WP Gynaecology. Women’s health, WS Paediatrics. Child health

العلاقة: Bolton, Shaun C, Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C, Vanier, Marie T and Geberhiwot, Tarekegn (2022) Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet journal of rare diseases, 17 (51). ISSN 1750-1172. This article is available to all UHB staff and students login using a UHB Athens Account. Register for Athens here - https://openathens.nice.org.ukTest/

الإتاحة: https://doi.org/10.1186/s13023-022-02200-4Test
http://www.repository.uhblibrary.co.uk/id/eprint/5229Test/
https://ojrd.biomedcentral.comTest/

المؤلفون: Bolton, Shaun C., Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C., Vanier, Marie T., Geberhiwot, Tarekegn

المصدر: Orphanet Journal of Rare Diseases; 2/14/2022, Vol. 17 Issue 1, p1-10, 10p

مصطلحات موضوعية: NIEMANN-Pick diseases, DEGLUTITION, MEDICAL registries, JUVENILE diseases, NEONATAL jaundice, AGE of onset

المؤلفون: Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J., Nadjar, Yann, Klünemann, Hans, Mengel, Eugen

المصدر: Orphanet Journal of Rare Diseases; 4/6/2018, Vol. 13 Issue 1, p1-1, 1p

مصطلحات موضوعية: NIEMANN-Pick diseases, MEDICAL protocols, SYMPTOMS, DIAGNOSTIC errors, MEDICAL quality control, THERAPEUTICS