المؤلفون: María José de Castro, Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos, María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta, Heather Church, Kathryn Brammeier, Wu Hoi Yee, James Cooper, Laura López de Frutos, Irene Serrano-Gonzalo, María José Camba, Fiona J. White, Victoria Holmes, Arunabha Ghosh

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/b5c38565cdd44d16807759d4ee950516Test

المؤلفون: Ormesher, Laura, Worton, Stephanie A, Best, Ashley, Dodd, Susanna R, Dempsey, Alice, Cottrell, Elizabeth C, Glossop, Heather, Chmiel, Catherine, Wu, Hoi Yee, Hardwick, Ben, Hennessy, Sophie, Johnstone, Edward D, Myers, Jenny E

المصدر: Ormesher , L , Worton , S A , Best , A , Dodd , S R , Dempsey , A , Cottrell , E C , Glossop , H , Chmiel , C , Wu , H Y , Hardwick , B , Hennessy , S , Johnstone , E D & Myers , J E 2024 , ' CHronic hypERtension and L-citRulline studY (CHERRY) : an Early-Phase Randomised Controlled Trial in Pregnancy ' , REPRODUCTIVE SCIENCES , vol. 31 , no. 2 , pp. 560-568 . https://doi.org/10.1007/s43032-023-01335-4Test

مصطلحات موضوعية: Asymmetric dimethylarginine, Citrulline, Hypertension, Pregnancy

العلاقة: https://research.manchester.ac.uk/en/publications/1e0bcd42-2ea2-418d-96ef-1e32e13154c4Test

الإتاحة: https://doi.org/10.1007/s43032-023-01335-4Test
https://research.manchester.ac.uk/en/publications/1e0bcd42-2ea2-418d-96ef-1e32e13154c4Test
http://www.scopus.com/inward/record.url?scp=85173103088&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/d4d85cda-a427-3f65-a83c-2c822e83e5e8Test/

المؤلفون: Cantley, Nathan W. P., Barski, Robert, Kemp, Helena, Hogg, Sarah L., Wu, Hoi Yee Teresa, Bowron, Ann, Collingwood, Catherine, Cundick, Jennifer, Hart, Claire, Shakespeare, Lynette, Preece, Mary Anne, Aitkenhead, Helen, Smith, Sarah, Carling, Rachel S., Moat, Stuart J.

المساهمون: Levy, Harvey L.

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/165415/1/IJNS-10-00002-v2.pdfTest; Cantley, Nathan W. P., Barski, Robert, Kemp, Helena, Hogg, Sarah L., Wu, Hoi Yee Teresa, Bowron, Ann, Collingwood, Catherine, Cundick, Jennifer, Hart, Claire, Shakespeare, Lynette, Preece, Mary Anne, Aitkenhead, Helen, Smith, Sarah, Carling, Rachel S. and Moat, Stuart J. https://orca.cardiff.ac.uk/view/cardiffauthors/A0083848.htmlTest 2023. Incidental detection of classical galactosemia through newborn screening for phenylketonuria: a 10-year retrospective audit to determine the efficacy of this approach. International Journal of Neonatal Screening 10 , 2. 10.3390/ijns10010002 https://doi.org/10.3390/ijns10010002Test file https://orca.cardiff.ac.uk/id/eprint/165415/1/IJNS-10-00002-v2.pdfTest

الإتاحة: https://doi.org/10.3390/ijns10010002Test
https://orca.cardiff.ac.uk/id/eprint/165415Test/
https://orca.cardiff.ac.uk/id/eprint/165415/1/IJNS-10-00002-v2.pdfTest

المؤلفون: Ormesher, Laura, Worton, Stephanie A., Best, Ashley, Dodd, Susanna R., Dempsey, Alice, Cottrell, Elizabeth C., Glossop, Heather, Chmiel, Catherine, Wu, Hoi Yee, Hardwick, Ben, Hennessy, Sophie, Johnstone, Edward D., Myers, Jenny E.

المساهمون: National Institute for Health and Care Research, Tommy's

المصدر: Reproductive Sciences ; volume 31, issue 2, page 560-568 ; ISSN 1933-7191 1933-7205

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1007/s43032-023-01335-4Test

المؤلفون: Cantley, Nathan W. P., Barski, Robert, Kemp, Helena, Hogg, Sarah L., Wu, Hoi Yee Teresa, Bowron, Ann, Collingwood, Catherine, Cundick, Jennifer, Hart, Claire, Shakespeare, Lynette, Preece, Mary Anne, Aitkenhead, Helen, Smith, Sarah, Carling, Rachel S., Moat, Stuart J.

المصدر: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p2, 7p

المؤلفون: Jerves Serrano, Teodoro, Gold, Jessica, Cooper, James A., Church, Heather J., Tylee, Karen L., Wu, Hoi Yee, Kim, Sun Young, Stepien, Karolina M.

المصدر: Journal of Clinical Medicine; Mar2024, Vol. 13 Issue 5, p1465, 19p

مصطلحات موضوعية: LYSOSOMAL storage diseases, LIFE expectancy, GLYCOGEN storage disease type II, DIAGNOSIS, MEMBRANE proteins, METABOLIC disorders, HEPATOMEGALY

المؤلفون: Ormesher, Laura, Worton, Stephanie A., Best, Ashley, Dodd, Susanna R., Dempsey, Alice, Cottrell, Elizabeth C., Glossop, Heather, Chmiel, Catherine, Wu, Hoi Yee, Hardwick, Ben, Hennessy, Sophie, Johnstone, Edward D., Myers, Jenny E.

المصدر: Reproductive Sciences; Feb2024, Vol. 31 Issue 2, p560-568, 9p

المؤلفون: AlSayed, Moeenaldeen, Broomfield, Alexander A., White, Fiona, Roberts, Jane, Vijay, Suresh, Wu, Hoi-Yee, Heras, Javier de las, Church, Heather, Van Spronsen, Francjan J., Arvonen, Miika, Gargus, John Jay, Slae, Mordechai, Ghosh, Arunabha, Gokcay, Gulden, Jones, Simon A.

المساهمون: University Of Manchester ,, 152981

مصطلحات موضوعية: Temel Bilimler, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri

العلاقة: Jones S. A. , AlSayed M., Broomfield A. A. , White F., Roberts J., Vijay S., Wu H., Heras J. d. l. , Church H., Van Spronsen F. J. , et al., "Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD)", We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, Amerika Birleşik Devletleri, 5 - 09 Şubat 2018, cilt.123; av_319dfd30-90bf-4d65-8439-8ad11af06617; vv_1032021; http://hdl.handle.net/20.500.12627/37752Test; https://doi.org/10.1016/j.ymgme.2017.12.180Test; 123

الإتاحة: https://doi.org/20.500.12627/37752Test
https://doi.org/10.1016/j.ymgme.2017.12.180Test
https://hdl.handle.net/20.500.12627/37752Test

المؤلفون: Jones, Simon A., AlSayed, Moeenaldeen, Broomfield, Alexander A., White, Fiona, Roberts, Jane, Vijay, Suresh, Wu, Hoi-Yee, de las Heras, Javier, Church, Heather, Van Spronsen, Francjan J., Gökçay, Gülden, Arvonen, Miika, Gargus, John Jay, Slae, Mordechai, Ghosh, Arunabha

المصدر: Molecular Genetics and Metabolism ; volume 123, issue 2, page S72-S73 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2017.12.180Test
https://api.elsevier.com/content/article/PII:S1096719217309551?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719217309551?httpAccept=text/plainTest

المؤلفون: Wu, Hoi Yee, Dawson, Mary R.L., Reynolds, Richard, Hardy, Rebecca J.

المصدر: Molecular and Cellular Neuroscience ; volume 17, issue 2, page 292-302 ; ISSN 1044-7431

الإتاحة: https://doi.org/10.1006/mcne.2000.0941Test
https://api.elsevier.com/content/article/PII:S1044743100909412?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1044743100909412?httpAccept=text/plainTest