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1دورية أكاديمية
المؤلفون: Donald, AimeeAff1, 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)
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2دورية أكاديمية
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
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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., 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 Diseasesمصطلحات 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
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4دورية أكاديمية
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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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6دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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7دورية أكاديمية
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8تقرير
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