المؤلفون: Thomas, Sophie¹ (AUTHOR), Morrison, Alexandra² (AUTHOR) a.morrison@rd-rp.com, Morton, Georgina³ (AUTHOR), Roberts, Pat³ (AUTHOR), Clark, Vivienne⁴ (AUTHOR), Imrie, Jackie⁴ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 2/25/2024, Vol. 19 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *CAREGIVERS, *LYSOSOMAL storage diseases, *HEMATOPOIETIC stem cells, *SYMPTOM burden, *PATIENTS

مصطلحات جغرافية: UNITED Kingdom, IRELAND

المؤلفون: Platt, Frances M.¹ frances.platt@pharm.ox.ac.uk

المصدر: Biochemical Society Transactions. Oct2023, Vol. 51 Issue 5, p1777-1787. 11p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *NIEMANN-Pick diseases, *INBORN errors of metabolism, *MEMBRANE proteins, *GENETIC mutation

المؤلفون: Martínez-Duncker, Iván, Doederlein-Schwartz, Ida Vanessa, Abreu-González, Melania, García-Ortiz, José Elías

المصدر: Frontiers in Genetics; 2024, p1-4, 4p

مصطلحات موضوعية: INBORN errors of metabolism, LYSOSOMES, GLYCOGEN storage disease type II, CONGENITAL myasthenic syndromes, LYSOSOMAL storage diseases

المؤلفون: İnci, Aslı, Ezgü, Fatih Süheyl, Tümer, Leyla

المصدر: Pediatric Drugs; May2024, Vol. 26 Issue 3, p287-308, 22p

مصطلحات موضوعية: ENZYME replacement therapy, IMMUNOLOGICAL tolerance, INBORN errors of metabolism, ORGANELLE formation, LYSOSOMAL storage diseases

المؤلفون: Rafael Alves Cordeiro, Nilton Salles Rosa Neto, Henrique Ayres Mayrink Giardini

المصدر: Advances in Rheumatology, Vol 64, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Inborn errors of metabolism, Lysosomal storage diseases, Sphingolipids, Sphingolipidoses, Gaucher disease, Fabry disease, Diseases of the musculoskeletal system, RC925-935, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2523-3106Test

الوصول الحر: https://doaj.org/article/38c5bb4b111747df8353bb723eced731Test

المؤلفون: Regnier, Maitena, Flammier, Sacha, Boutaba, Mounia, Ndongo, Aliou Abdoulaye, Servais, Aude, Schaefer, Franz, Levtchenko, Elena, Bacchetta, Justine, Bertholet-Thomas, Aurélia

المصدر: Pediatric Nephrology; Apr2024, Vol. 39 Issue 4, p1113-1123, 11p

مصطلحات موضوعية: INBORN errors of metabolism diagnosis, HEALTH services accessibility, CROSS-sectional method, WORLD health, KIDNEY diseases, AMINES, LYSOSOMAL storage diseases, QUESTIONNAIRES, RESEARCH funding, INBORN errors of metabolism, HEALTH equity, RARE diseases

المؤلفون: Fonseca, Tiago, Macedo, M. Fátima

المصدر: Biomedicines; Jan2024, Vol. 12 Issue 1, p174, 4p

مصطلحات موضوعية: GLYCOGEN storage disease type II, LYSOSOMAL storage diseases, INBORN errors of metabolism, CYTOTOXIC T cells, METABOLIC disorders, GLYCOGEN storage disease, ANGIOKERATOMA corporis diffusum

المؤلفون: Fahmy, Eman M.¹, Abdelkreem, Elsayed¹ d.elsayedmohammed@med.sohag.edu.eg, Mohamed, Osama E.¹, Abosdera, Mostafa M.¹, Sadek, Abdelrahim A.¹

المصدر: Egyptian Journal of Hospital Medicine. Jul2022, Vol. 88, p3069-3077. 9p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *EGYPTIANS, *INBORN errors of metabolism, *GLYCOGEN storage disease type II, *NIEMANN-Pick diseases, *GAUCHER'S disease

المؤلفون: Nasir, Sharmeen, Mehnaz, Aisha, Jamal, Ammarah, Rafique, Muhammad, Yahya, Yousuf, Kamran, Amber

المصدر: Journal of Liaquat University of Medical & Health Sciences; Oct-Dec2023, Vol. 22 Issue 4, p277-281, 5p

مصطلحات موضوعية: GLYCOGEN storage disease type II, METABOLIC disorders, TERTIARY care, TYPHOID fever, INBORN errors of metabolism, LYSOSOMAL storage diseases

مصطلحات جغرافية: KARACHI (Pakistan), PAKISTAN

المؤلفون: Kamihara, Yuki, Ozawa, Katsusuke, Muromoto, Jin, Sugibayashi, Rika, Wada, Seiji, Shibata, Yuka, Hori, Asuka, Hasegawa, Fuyuki, Hata, Kenichiro, Sago, Haruhiko

المصدر: Journal of Obstetrics & Gynaecology Research; Oct2023, Vol. 49 Issue 10, p2538-2543, 6p

مصطلحات موضوعية: DIAGNOSIS of fetal diseases, PLEURAL effusions, GESTATIONAL age, LYSOSOMAL storage diseases, ASCITES, PREGNANCY outcomes, CASE studies, INBORN errors of metabolism, PLEURA diseases, GYNECOLOGIC care, HYDROPS fetalis, SKIN abnormalities, PHENOTYPES