المؤلفون: Julia‐Palacios, Natalia Alexandra, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thomas, Fung, Cheuk‐Wing, Wong, Suet‐Na, Cortès‐Saladelafont, Elisenda, Rovira‐Remisa, M. Mar, Yıldız, Yılmaz, Mercimek‐Andrews, Saadet, Assmann, Birgit, Stevanović, Galina, Manti, Filippo, Brennenstuhl, Heiko, Jung‐Klawitter, Sabine, Jeltsch, Kathrin, Sivri, H. Serap, Garbade, Sven F., García‐Cazorla, Àngels, Opladen, Thomas

المساهمون: Julia‐palacios, Natalia Alexandra, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thoma, Fung, Cheuk‐wing, Wong, Suet‐na, Cortès‐saladelafont, Elisenda, Rovira‐remisa, M. Mar, Yıldız, Yılmaz, Mercimek‐andrews, Saadet, Assmann, Birgit, Stevanović, Galina, Manti, Filippo, Brennenstuhl, Heiko, Jung‐klawitter, Sabine, Jeltsch, Kathrin, Sivri, H. Serap, Garbade, Sven F., García‐cazorla, Àngel, Opladen, Thomas

مصطلحات موضوعية: SSADH deficiency, evolving phenotype, genetic spectrum, in silico analyse, long-term follow-up

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38499966; info:eu-repo/semantics/altIdentifier/wos/WOS:001186595000001; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11573/1707159Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188475525

الإتاحة: https://doi.org/10.1002/jimd.12723Test
https://hdl.handle.net/11573/1707159Test

المؤلفون: Rovira-Remisa, M. Mar, Moreira, Mónica, Ventura-Wichner, Paula S, Gonzalez-Alvarez, Pablo, Mestres, Núria, Graterol Torres, Fredzzia, Joaquín, Clara, Rodríguez-Palmero, Agustí, Martínez-Colls, Maria del Mar, Roche, Ana, Ibáñez-Micó, Salvador, López-Laso, Eduardo, Méndez-Hernández, María Jesús, Murillo-Vallés, Marta, Monlleó-Neila, Laura, Maqueda-Castellote, Elena, Del Toro, Mireia, Felipe-Rucián, Ana, Giralt López, Maria, Cortès-Saladelafont, Elisenda

مصطلحات موضوعية: Rare diseases, Quality of life, Anxiety, Depression, Inherited metabolic disease

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Metabolism Reports; Vol. 35 (march 2023), p. 100962; https://ddd.uab.cat/record/273227Test; urn:10.1016/j.ymgmr.2023.100962; urn:oai:ddd.uab.cat:273227; urn:pmcid:PMC9986135; urn:pmc-uid:9986135; urn:pmid:36909454; urn:oai:pubmedcentral.nih.gov:9986135; urn:articleid:22144269v35p100962; urn:oai:egreta.uab.cat:publications/e6dd9283-5908-411c-9efb-d5a5775a8bc7

الإتاحة: https://ddd.uab.cat/record/273227Test

المؤلفون: Jung-Klawitter, Sabine, Sivri, H Serap, Julia-Palacios, Natalia Alexandra, Jeltsch, Kathrin, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thomas, Fung, Cheuk-Wing, Wong, Suet-Na, Brennenstuhl, Heiko, Manti, Filippo, Stevanović, Galina, Cortès-Saladelafont, Elisenda, Rovira-Remisa, M Mar, Yıldız, YILMAZ, Mercimek-Andrews, Saadet, Opladen, Thomas, García-Cazorla, Àngels, Garbade, Sven F, Assmann, Birgit

العلاقة: 099df138-5863-4896-a626-14c892868416; https://avesis.hacettepe.edu.tr/publication/details/099df138-5863-4896-a626-14c892868416/oaiTest

الإتاحة: https://doi.org/10.1002/jimd.12723Test
https://avesis.hacettepe.edu.tr/publication/details/099df138-5863-4896-a626-14c892868416/oaiTest

المؤلفون: Elmonem, Mohamed A., Belanger-Quintana, Amaya, Bordugo, Andrea, Boruah, Ritma, Cortès-Saladelafont, Elisenda, Endrakanti, Mounika, Giraldo, Pilar, Grünert, Sarah Catharina, Gupta, Neerja, Kabra, Madhulika, Knerr, Ina, Krämer, Johannes, Kuster, Alice, Levtchenko, Elena, Ngu, Lock-Hock, Rovira-Remisa, M. Mar, Sass, Jörn Oliver, Sykut-Cegielska, Jolanta, Tummolo, Albina, van den Heuvel, Lambertus P.

المصدر: Molecular Genetics and Metabolism ; volume 131, issue 3, page 285-288 ; ISSN 1096-7192

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

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.09.004Test
https://api.elsevier.com/content/article/PII:S1096719220301955?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719220301955?httpAccept=text/plainTest