المؤلفون: Yap, Sufin, Lamireau, Delphine, Feillet, Francois, Ruiz Gomez, Angeles, Davison, James, Tangeraas, Trine, Giordano, Vincenzo

المساهمون: Recordati Rare Diseases

المصدر: Drugs in R&D ; ISSN 1174-5886 1179-6901

مصطلحات موضوعية: Pharmacology

الإتاحة: https://doi.org/10.1007/s40268-023-00449-zTest

المؤلفون: Cohen, Marta C., Yap, Sufin, Olpin, Simon E., Scott, Camilla

المصدر: Reference Module in Social Sciences ; ISBN 9780443157851

الإتاحة: https://doi.org/10.1016/b978-0-443-21441-7.00046-7Test
https://api.elsevier.com/content/article/PII:B9780443214417000467?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780443214417000467?httpAccept=text/plainTest

المؤلفون: Nutting, Charlotte, Piercy, Hilary, Yap, Sufin

وصف الملف: application/pdf

العلاقة: http://shura.shu.ac.uk/29582Test/; https://shura.shu.ac.uk/29582/1/Nutting-JustAlwaysEating%28VoR%29.pdfTest; NUTTING, Charlotte, PIERCY, Hilary and YAP, Sufin (2021). "It's Just Always Eating": The Experiences of Young People Growing up Medium Chain Acyl-CoA Dehydrogenase Deficiency (Mcadd) [abstract only]. International Journal of Qualitative Methods, 20, p. 96.

الإتاحة: https://doi.org/10.1177/16094069211053959Test
https://shura.shu.ac.uk/29582/1/Nutting-JustAlwaysEating%28VoR%29.pdfTest

المؤلفون: Piercy, Hilary, Nutting, Charlotte, Yap, Sufin

وصف الملف: application/pdf

العلاقة: http://shura.shu.ac.uk/28958Test/; https://shura.shu.ac.uk/28958/1/10.1177_23333936211032203.pdfTest; PIERCY, Hilary , NUTTING, Charlotte and YAP, Sufin (2021). “It’s Just Always Eating”: The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency. Global Qualitative Nursing Research, 8.

الإتاحة: https://doi.org/10.1177/23333936211032203Test

المؤلفون: Yap, Sufin, Vara, Roshni, Morais, Ana

المساهمون: Recordati Rare Diseases

المصدر: Advances in Therapy ; volume 37, issue 5, page 1866-1896 ; ISSN 0741-238X 1865-8652

مصطلحات موضوعية: Pharmacology (medical), General Medicine

الإتاحة: https://doi.org/10.1007/s12325-020-01305-1Test

المؤلفون: Piercy, Hilary, Yeo, Mildrid, Yap, Sufin, Hart, Anthony R

وصف الملف: application/pdf

العلاقة: http://shura.shu.ac.uk/25351Test/; https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-019-1742-xTest; https://shura.shu.ac.uk/25351/1/Piercy-WhatAreTheInformation%28VoR%29.pdfTest; PIERCY, Hilary , YEO, Mildrid, YAP, Sufin and HART, Anthony R (2019). What are the information needs of parents caring for a child with Glutaric aciduria type 1? BMC Pediatrics, 19 (1), p. 349.

الإتاحة: https://doi.org/10.1186/s12887-019-1742-xTest
https://shura.shu.ac.uk/25351/1/Piercy-WhatAreTheInformation%28VoR%29.pdfTest

المؤلفون: Yap, Sufin, Gougeard, Nadine, Hart, Anthony R., Barcelona, Belén, Rubio, Vicente

المساهمون: Ministerio de Economía y Competitividad (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Fundación Inocente Inocente, Rubio, Vicente

مصطلحات موضوعية: Carbamylglutamate, Carglumic acid, Carglumic acid test trial, Hyperammonemia, Novel treatments, Urea cycle disorders

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/MINECO/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/BFU2017-84264-P; Publisher's version; http://dx.doi.org/10.1002/jmd2.12034Test; Sí; JIMD Reports 48(1):36-44 (2019); http://hdl.handle.net/10261/192035Test; http://dx.doi.org/10.13039/501100003329Test

الإتاحة: https://doi.org/10.1002/jmd2.12034Test
https://doi.org/10.13039/501100003329Test
http://hdl.handle.net/10261/192035Test

المؤلفون: Morris, Andrew A M, Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I M, Chakrapani, Anupam B, Crushell, Ellen, Henderson, Mick J, Hochuli, Michel, Huemer, Martina, Janssen, Miriam C H, Maillot, Francois, Mayne, Philip D, McNulty, Jenny, Morrison, Tara M, Ogier, Helene, O'Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J, Chapman, Kimberly A

المصدر: Morris, Andrew A M; Kožich, Viktor; Santra, Saikat; Andria, Generoso; Ben-Omran, Tawfeg I M; Chakrapani, Anupam B; Crushell, Ellen; Henderson, Mick J; Hochuli, Michel; Huemer, Martina; Janssen, Miriam C H; Maillot, Francois; Mayne, Philip D; McNulty, Jenny; Morrison, Tara M; Ogier, Helene; O'Sullivan, Siobhan; Pavlíková, Markéta; de Almeida, Isabel Tavares; Terry, Allyson; Yap, Sufin; Blom, Henk J; Chapman, Kimberly A (2017). Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. Journal of Inherited Metabolic Disease, 40(1):49-74.

مصطلحات موضوعية: Medical Clinic, Clinic for Endocrinology and Diabetology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/132740/1/ZORA132740.pdfTest; info:pmid/27778219; urn:issn:0141-8955

الإتاحة: https://doi.org/10.5167/uzh-13274010.1007/s10545-016-9979-0Test
https://www.zora.uzh.ch/id/eprint/132740Test/
https://www.zora.uzh.ch/id/eprint/132740/1/ZORA132740.pdfTest

المؤلفون: Piercy, Hilary, Machaczek, Katarzyna, Ali, Parveen, Yap, Sufin

وصف الملف: application/pdf

العلاقة: http://shura.shu.ac.uk/15676Test/; https://shura.shu.ac.uk/15676/1/Piercy,%20et%20al%20-%20Parental%20experiences%20of%20raising%20a%20child%20with%20medium%20chain%20%28VoR%29.pdfTest; PIERCY, Hilary , MACHACZEK, Katarzyna , ALI, Parveen and YAP, Sufin (2017). Parental experiences of raising a child with medium chain Acyl-CoA Dehydrogenase deficiency. Global Qualitative Nursing research, 4, 1-8.

الإتاحة: https://doi.org/10.1177/2333393617707080Test
https://shura.shu.ac.uk/15676/1/Piercy,%20et%20al%20-%20Parental%20experiences%20of%20raising%20a%20child%20with%20medium%20chain%20%28VoR%29.pdfTest

المؤلفون: Yap, Sufin, Annesley-Williams, Deborah, Hardiman, Orla

المصدر: SAGE Open Medical Case Reports ; volume 5, page 2050313X1772228 ; ISSN 2050-313X 2050-313X

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1177/2050313x17722289Test