المؤلفون: Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan

المصدر: International Journal of Neonatal Screening; Volume 8; Issue 2; Pages: 25

مصطلحات موضوعية: newborn screening (NBS), inherited metabolic disease, inherited disorder, public health, paediatrics, rare diseases, genetics, congenital disorders, methodology, Wilson and Jungner

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/ijns8020025Test

الإتاحة: https://doi.org/10.3390/ijns8020025Test

المؤلفون: Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu, Wenjuan Qiu

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Glycogen storage disease VI, Inherited metabolic disease, Molecular diagnosis, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-020-01010-4Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/09539fa850a54123b6ffbd2838b327a3Test

المؤلفون: Amélie Barthelemy, Valérie Demais, Izabela-Cristina Stancu, Eugeniu Vasile, Tom Houben, Michael Reber, Valentina Pallottini, Martine Perraut, Sophie Reibel, Frank W. Pfrieger

المصدر: Neurobiology of Disease, Vol 158, Iss , Pp 105469- (2021)

مصطلحات موضوعية: Lysosome, Intravitreal, Cyclodextrin, Inherited metabolic disease, Ganglion cells, Amacrine cells, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996121002187Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/403658d39f4344499eda03063ddd8fadTest

المؤلفون: Yanyan Cao, Lingzhi Meng, Yudong Zhang, Jiancheng Jiao, Weicong Pu, Li Ma

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: nonketotic hyperglycinemia, GLDC variation, compound heterozygous variant, glycine cleavage enzyme system, inherited metabolic disease, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.725930/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/cdcfd257715f48b79924c7edb7f3e2edTest

المؤلفون: Karolina M. Stepien, Beata Kieć-Wilk, Christina Lampe, Trine Tangeraas, Graziella Cefalo, Nadia Belmatoug, Rita Francisco, Mireia del Toro, Leona Wagner, Anne-Grethe Lauridsen, Sylvia Sestini, Nathalie Weinhold, Andreas Hahn, Chiara Montanari, Valentina Rovelli, Cinzia M. Bellettato, Laura Paneghetti, Corine van Lingen, Maurizio Scarpa

المصدر: Frontiers in Medicine, Vol 8 (2021)

مصطلحات موضوعية: rare disease, inherited metabolic disease(s), transition process, challenge, adulthood (18 years and older), continuity of care, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2021.652358/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/ab9c00a893ff40469cdc81bd147cbd63Test

المؤلفون: Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Patient reported outcome measures (PROMs), Observer reported outcome measures (ObsROMs), Quality of life (QoL), Health-related quality of life (HrQoL), Inherited metabolic disease(s) (IMD(s)), Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0953-9Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/b594ac784cf54879b11d396db971cbceTest

المؤلفون: Barthelemy A., Demais V., Stancu I. -C., Vasile E., Houben T., Reber M., Pallottini V., Perraut M., Reibel S., Pfrieger F. W.

المساهمون: Barthelemy, A., Demais, V., Stancu, I. -C., Vasile, E., Houben, T., Reber, M., Pallottini, V., Perraut, M., Reibel, S., Pfrieger, F. W.

مصطلحات موضوعية: Amacrine cell, Astrocyte, Cyclodextrin, Ganglion cell, Inherited metabolic disease, Intravitreal, Lysosome, Microglia, Müller cell, Neutrophil granulocytes

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000696960800005; volume:158; firstpage:105469; journal:NEUROBIOLOGY OF DISEASE; http://hdl.handle.net/11590/393356Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112106075

الإتاحة: https://doi.org/10.1016/j.nbd.2021.105469Test
http://hdl.handle.net/11590/393356Test

المؤلفون: Stepien, Karolina M, Kieć-Wilk, Beata, Lampe, Christina, Tangeraas, Trine, Cefalo, Graziella, Belmatoug, Nadia, Francisco, Rita, Del Toro, Mireia, Wagner, Leona, Lauridsen, Anne-Grethe, Sestini, Sylvia, Weinhold, Nathalie, Hahn, Andreas, Montanari, Chiara, Rovelli, Valentina, Bellettato, Cinzia M, Paneghetti, Laura, van Lingen, Corine, Scarpa, Maurizio

المساهمون: K.M. Stepien, B. Kieć-Wilk, C. Lampe, T. Tangeraa, G. Cefalo, N. Belmatoug, R. Francisco, M. Del Toro, L. Wagner, A. Lauridsen, S. Sestini, N. Weinhold, A. Hahn, C. Montanari, V. Rovelli, C.M. Bellettato, L. Paneghetti, C. van Lingen, M. Scarpa

مصطلحات موضوعية: adult metabolic patient, adulthood (18 years and older), challenge, continuity of care, inherited metabolic disease(s), rare disease, transition process, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33738294; info:eu-repo/semantics/altIdentifier/wos/WOS:000629292700001; volume:8; firstpage:1; lastpage:9; numberofpages:9; journal:FRONTIERS IN MEDICINE; https://hdl.handle.net/2434/988530Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102786125

الإتاحة: https://doi.org/10.3389/fmed.2021.652358Test
https://hdl.handle.net/2434/988530Test

المؤلفون: Derks, Terry G J, Peeks, Fabian, de Boer, Foekje, Fokkert-Wilts, Marieke, van der Doef, Hubert P J, van den Heuvel, Marius C, Szymańska, Edyta, Rokicki, Dariusz, Ryan, Patrick T, Weinstein, David A

المصدر: Derks , T G J , Peeks , F , de Boer , F , Fokkert-Wilts , M , van der Doef , H P J , van den Heuvel , M C , Szymańska , E , Rokicki , D , Ryan , P T & Weinstein , D A 2021 , ' The potential of dietary treatment in patients with glycogen storage disease type IV ' , Journal of Inherited Metabolic Disease , vol. 44 , no. 3 , pp. 693-704 . https://doi.org/10.1002/jimd.12339Test

مصطلحات موضوعية: dietary intervention, glycogen storage disease, glycogen storage disease type IV, inherited metabolic disease, liver transplantation, BRANCHING ENZYME-ACTIVITY, LIVER-TRANSPLANTATION, MOUSE MODEL, DEFICIENCY, THERAPY, CIRRHOSIS, VARIANT

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/9a86aeb0-6034-4af8-9e2b-fdea47895347Test

الإتاحة: https://doi.org/10.1002/jimd.12339Test
https://hdl.handle.net/11370/9a86aeb0-6034-4af8-9e2b-fdea47895347Test
https://research.rug.nl/en/publications/9a86aeb0-6034-4af8-9e2b-fdea47895347Test
https://pure.rug.nl/ws/files/202896209/J_of_Inher_Metab_Disea_2020_Derks_The_potential_of_dietary_treatment_in_patients_with_glycogen_storage_disease_type.pdfTest

المؤلفون: Stepien, Karolina M., Kieć-Wilk, Beata, Lampe, Christina, Tangeraas, Trine, Cefalo, Graziella, Belmatoug, Nadia, Francisco, Rita, Del Toro, Mireia, Wagner, Leona, Lauridsen, Anne-Grethe, Sestini, Sylvia, Weinhold, Nathalie, Hahn, Andreas, Montanari, Chiara, Rovelli, Valentina, Bellettato, Cinzia M., Paneghetti, Laura, van Lingen, Corine, Scarpa, Maurizio, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Rare disease, Inherited metabolic disease(s), Transition process, Challenge, Adulthood (18 years and older), Continuity of care, Adult metabolic patient

وصف الملف: application/pdf

العلاقة: Frontiers in Medicine; Vol. 8 (february 2021); https://ddd.uab.cat/record/237950Test; urn:10.3389/fmed.2021.652358; urn:oai:ddd.uab.cat:237950; urn:pmcid:PMC7962750; urn:pmc-uid:7962750; urn:pmid:33738294; urn:oai:pubmedcentral.nih.gov:7962750

الإتاحة: https://ddd.uab.cat/record/237950Test