المؤلفون: Donald, Aimee^Aff1, Tan, Chong Y., Chakrapani, Anupam, Hughes, Derralyn A., Sharma, Reena, Cole, Duncan, Bardins, Stanislav, Gorges, Martin, Jones, Simon A., Schneider, Erich

المصدر: Orphanet Journal of Rare Diseases. 15(1)

المؤلفون: Elkhateeb, Nour, Hyde, Sarah, Hogg, Sarah L., Allsop, Daniel, Shankar, Arun, Deegan, Patrick, Tan, Chong Y.

المصدر: Journal of Inherited Metabolic Disease Reports; May2023, Vol. 64 Issue 3, p238-245, 8p

المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.

المساهمون: Cox, Timothy M [0000-0002-4951-9941], Apollo - University of Cambridge Repository, Cox, Timothy M. [0000-0002-4951-9941]

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Splenectomy, Disease, Cohort Studies, Lysosomal storage diseases, medicine, Humans, Disease-modifying therapies, GAUCHERITE, Pharmacology (medical), Substrate reduction therapy, Prospective Studies, Bone pain, Genetics (clinical), Retrospective Studies, Gaucher Disease, business.industry, Research, Cohort, Genetic disorder, General Medicine, Enzyme replacement therapy, medicine.disease, Orthopedic surgery, Medicine, Glucosylceramidase, Nervous System Diseases, medicine.symptom, business

وصف الملف: application/pdf; application/zip; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2019fd6ca96eb1cda8c25a96cb5b49d
https://doi.org/10.1186/s13023-021-02034-6

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المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M.

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases, nervous system diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a49422628c9d37d05b6972f396dcd8

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تسجيل الدخول للوصول الكامل.

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المؤلفون: Elkhateeb N; Department of Metabolic Medicine Cambridge University hospitals NHS Foundation Trust Cambridge UK.; Department of Clinical Genetics Cambridge University hospitals NHS Foundation Trust Cambridge UK., Hyde S; Department of Gastroenterology Norfolk and Norwich University Hospital NHS Trust Norwich UK., Hogg SL; Biochemical Genetics Unit Cambridge University Hospitals NHS Foundation Trust Cambridge UK., Allsop D; Department of Histopathology Norfolk and Norwich University Hospitals NHS Trust Norwich UK., Shankar A; Department of Gastroenterology Norfolk and Norwich University Hospital NHS Trust Norwich UK., Deegan P; Department of Metabolic Medicine Cambridge University hospitals NHS Foundation Trust Cambridge UK., Tan CY; Department of Metabolic Medicine Cambridge University hospitals NHS Foundation Trust Cambridge UK.

المصدر: JIMD reports [JIMD Rep] 2023 Mar 03; Vol. 64 (3), pp. 238-245. Date of Electronic Publication: 2023 Mar 03 (Print Publication: 2023).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE