المؤلفون: Kishnani, Priya S., Seefried, Lothar, Dahir, Kathryn M., Martos‐Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Mowrey, William R., Fang, Shona, Ozono, Keiichi, Högler, Wolfgang, Rockman‐Greenberg, Cheryl

المساهمون: Alexion Pharmaceuticals

المصدر: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63781Test

المؤلفون: Kishnani, Priya S., Martos Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Messali, Andrew, Fang, Shona, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Högler, Wolfgang, Seefried, Lothar, Dahir, Kathryn M.

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: asfotase alfa, hypophosphatasia, Medicina

وصف الملف: application/pdf

العلاقة: Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-024-03048-6Test; Orphanet Journal of Rare Diseases 19.1 (2024): 109; 1750-1172 (online); http://hdl.handle.net/10486/712946Test; 109-1; 109-11; 19

الإتاحة: https://doi.org/10.1186/s13023-024-03048-6Test
http://hdl.handle.net/10486/712946Test

المؤلفون: Grange, Laura J., Martos Moreno, Gabriel Ángel, Argente Oliver, Jesús

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: SLF2, SMC5, mutations in DNA, hyperploidy, atelís syndrome, chromosomes, genomic instability, neurodevelopmental disorders, Medicina

وصف الملف: application/pdf

العلاقة: Nature Communications; https://doi.org/10.1038/s41467-022-34349-8Test; info:eu-repo/grantAgreement/EC/H2020/788093; Nature Communications 13.1 (2022): 6664; 2041-1723 (online); http://hdl.handle.net/10486/711892Test; 6664-1; 6664-22; 13

الإتاحة: https://doi.org/10.1038/s41467-022-34349-8Test
http://hdl.handle.net/10486/711892Test

المؤلفون: Farman, Mariam R., Rehder, Catherine, Malli, Theodora, Rockman-Greenberg, Cheryl, Dahir, Kathryn, Martos-Moreno, Gabriel Ángel, Linglart, Agnès, Ozono, Keiichi, Seefried, Lothar, del Angel, Guillermo, Webersinke, Gerald, Barbazza, Francesca, John, Lisa K., Delana Mudiyanselage, Sewmi M.A., Högler, Florian, Nading, Erica Burner, Huggins, Erin, Rush, Eric T., El-Gazzar, Ahmed, Kishnani, Priya S., Högler, Wolfgang

المصدر: Bone ; volume 178, page 116947 ; ISSN 8756-3282

مصطلحات موضوعية: Histology, Physiology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.bone.2023.116947Test
https://api.elsevier.com/content/article/PII:S8756328223002806?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S8756328223002806?httpAccept=text/plainTest

المؤلفون: Dahir, Kathryn M., Seefried, Lothar, Kishnani, Priya S., Petryk, Anna, Högler, Wolfgang, Linglart, Agnès, Martos Moreno, Gabriel Ángel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: burden of disease, enzyme replacement therapy, HRQoL, hypophosphatasia, Medicina

وصف الملف: application/pdf

العلاقة: Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-022-02393-8Test; Orphanet Journal of Rare Diseases 17 (2022): 277; 1750-1172 (online); http://hdl.handle.net/10486/707817Test; 277-1; 277-9; 17

الإتاحة: https://doi.org/10.1186/s13023-022-02393-8Test
http://hdl.handle.net/10486/707817Test

المؤلفون: Dahir, Kathryn M., Kishnani, Priya S., Martos Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Rockman-Greenberg, Cheryl, Martel, Samantha E., Ozono, Keiichi, Högler, Wolfgang, Seefried, Lothar

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: 6MWT, rare diseases, alkaline phosphatase, SF-36, health-related quality of life, mobility, fracture, pseudofracture, Medicina

وصف الملف: application/pdf

العلاقة: Frontiers in Endocrinology; https://doi.org/10.3389/fendo.2023.1138599Test; Frontiers in Endocrinology 24 (2023): 1-9; 1664-2392 (online); http://hdl.handle.net/10486/709104Test; 24

الإتاحة: https://doi.org/10.3389/fendo.2023.1138599Test
http://hdl.handle.net/10486/709104Test

المؤلفون: Högler, Wolfgang, Linglart, Agnès, Petryk, Anna, Kishnani, Priya S., Seefried, Lothar, Fang, Shona, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Dahir, Kathryn, Martos Moreno, Gabriel Ángel

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: body mass index, growth, Height, hypophosphatasia, registry, Medicina

وصف الملف: application/pdf

العلاقة: Endocrine Connections; https://doi.org/10.1530/ec-22-0240Test; Endocrine Connections 12.5 (2023): e220240; 2049-3614 (online); http://hdl.handle.net/10486/708691Test; e220240-1; e220240-12; 12

الإتاحة: https://doi.org/10.1530/EC-22-0240Test
https://doi.org/10.1530/ec-22-0240Test
http://hdl.handle.net/10486/708691Test

المؤلفون: Martos-Moreno, Gabriel Ángel, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Petryk, Anna, Kishnani, Priya S., Dahir, Kathryn M., Seefried, Lothar, Fang, Shona, Högler, Wolfgang, Linglart, Agnès

المصدر: Hormone Research in Paediatrics ; volume 97, issue 3, page 233-242 ; ISSN 1663-2818 1663-2826

الإتاحة: https://doi.org/10.1159/000531865Test
https://karger.com/hrp/article-pdf/97/3/233/4235265/000531865.pdfTest

المؤلفون: Sáenz de Pipaón Marcos, Miguel, Martínez Biarge, Miriam, Dorronsoro, Izaskun, Salas, Sofía, Madero, Rosario, Martos Moreno, Gabriel Ángel, Argente Oliver, Jesús, Quero, José

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: prematurity, nutrition, growth, Medicina

وصف الملف: application/pdf

العلاقة: Neonatology; https://doi.org/10.1159/000358479Test; Neonatology 106.1 (2014): 30-36; 1661-7819 (online); 1661-7800 (print); http://hdl.handle.net/10486/710350Test; 30; 36; 106

الإتاحة: https://doi.org/10.1159/000358479Test
http://hdl.handle.net/10486/710350Test

المؤلفون: Martín-Rivada, Álvaro, Barrios, Vicente, Martínez Díaz-Guerra, Guillermo, Pozo, Jesús, Martos-Moreno, Gabriel Ángel, Argente, Jesús

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: Bone density, Free IGF-1, GH/IGF-1, Growth, Total IGF-1, PAPP-A2, rhIGF-1, Medicina

وصف الملف: application/pdf

العلاقة: Growth Hormone and IGF Research; https://doi.org/10.1016/j.ghir.2021.101419Test; Gobierno de España. FIS-PI19/00166; Growth Hormone & IGF Research 60-61 (2021): 101419; http://hdl.handle.net/10486/700703Test; 101419-1; 101419-4; 60-61

الإتاحة: https://doi.org/10.1016/j.ghir.2021.101419Test
http://hdl.handle.net/10486/700703Test