المؤلفون: Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, DiBacco, Melissa L., Elsea, Sarah H., García-Cazorla, Àngels, Gibson, K. Michael, Gropman, Andrea L., Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H.C., Malaspina, Patrizia, McConnell, Alice, Opladen, Thomas, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A., Roullet, Jean-Baptiste, Pearl, Phillip L.

المساهمون: Boston Childrens Hospital, NICHD

المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108363 ; ISSN 1096-7192

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

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108363Test
https://api.elsevier.com/content/article/PII:S1096719224002488?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224002488?httpAccept=text/plainTest

المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

المساهمون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngel, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Toma, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thoma, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

مصطلحات موضوعية: ACMG, Dopamine, Neurotransmitter disorder, Serotonin, Variant effect prediction

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37348148; info:eu-repo/semantics/altIdentifier/wos/WOS:001037197400001; volume:139; issue:3; firstpage:1; lastpage:9; numberofpages:9; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11562/1097586Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85162242618; https://doi.org/10.1016/j.ymgme.2023.107624Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/11562/1097586Test

المؤلفون: Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D, Pons, Roser, López-Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy-Hollins, Marisela E, Wong, Suet-Na, Oppebøen, Mari, Medeiros, Leonardo Simão, de Paula, Leila Cristina Pedroso, García-Cazorla, Angeles, Hoffmann, Georg F, Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z Alev, Sivri, Serap, Opladen, Thomas

المساهمون: Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D, Pons, Roser, López-Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy-Hollins, Marisela E, Wong, Suet-Na, Oppebøen, Mari, Medeiros, Leonardo Simão, de Paula, Leila Cristina Pedroso, García-Cazorla, Angele, Hoffmann, Georg F, Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z Alev, Sivri, Serap, Opladen, Thomas

مصطلحات موضوعية: biogenic amine, hyperprolactinemia, hypogonadism, neurotransmitter disorder, prolactinoma, tetrahydrobiopterin (BH4) deficiency

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37452721; info:eu-repo/semantics/altIdentifier/wos/WOS:001034370300001; issue:accepted July 2023; numberofpages:16; journal:JOURNAL OF INHERITED METABOLIC DISEASE; https://hdl.handle.net/11573/1689253Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165554219

الإتاحة: https://doi.org/10.1002/jimd.12658Test
https://hdl.handle.net/11573/1689253Test

المؤلفون: Salvador, Cathrin Lytomt, Oppebøen, Mari, Østeby Vassli, Anja, Pfeiffer, Helle Cecilie, Varhaug, Kristin Nielsen, Elgstøen, Katja B. Prestø, Yazdani, Mazyar

المصدر: Pediatric Neurology ; 68-76 ; 143

وصف الملف: application/pdf

العلاقة: urn:issn:0887-8994; https://hdl.handle.net/11250/3121278Test; https://doi.org/10.1016/j.pediatrneurol.2023.02.016Test; cristin:2159015; Pediatric Neurology. 2023, 143, 68-76.

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2023.02.016Test
https://hdl.handle.net/11250/3121278Test

المؤلفون: Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

المصدر: Himmelreich , N , Bertoldi , M , Alfadhel , M , Alghamdi , M A , Anikster , Y , Bao , X , Bashiri , F A , Zeev , B B , Bisello , G , Ceylan , A C , Chien , Y H , Choy , Y S , Elsea , S H , Flint , L , García-Cazorla , À , Gijavanekar , C , Gümüş , E Y , Hamad , M H , Hişmi , B , Honzik , T , Kuseyri Hübschmann , O , Hwu , W L , ....

العلاقة: https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107647Test
https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/1983/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
https://research-information.bris.ac.uk/en/publications/e124cba8-b376-4981-a0d4-a4fff9a86fabTest
http://www.scopus.com/inward/record.url?scp=85165039598&partnerID=8YFLogxKTest

المؤلفون: Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, de Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin

المصدر: Journal of Inherited Metabolic Disease; May2024, Vol. 47 Issue 3, p431-446, 16p

المؤلفون: Kuseyri Hübschmann, Oya, Mohr, Alexander, Friedman, Jennifer, Manti, Filippo, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Mercimek-Andrews, Saadet, Yildiz, Yilmaz, Pons, Roser, Kulhánek, Jan, Oppebøen, Mari, Koht, Jeanette Aimee, Podzamczer-Valls, Inés, Domingo-Jimenez, Rosario, Ibáñez, Salvador, Alcoverro-Fortuny, Oscar, Gómez-Alemany, Teresa, de Castro, Pedro, Alfonsi, Chiara, Zafeiriou, Dimitrios I, López-Laso, Eduardo, Guder, Philipp, Santer, René, Honzík, Tomáš, Hoffmann, Georg F, Garbade, Sven F, Sivri, H Serap, Leuzzi, Vincenzo, Jeltsch, Kathrin, García-Cazorla, Angeles, Opladen, Thomas, Harting, Inga

المساهمون: Kuseyri Hübschmann, Oya, Mohr, Alexander, Friedman, Jennifer, Manti, Filippo, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Mercimek-Andrews, Saadet, Yildiz, Yilmaz, Pons, Roser, Kulhánek, Jan, Oppebøen, Mari, Koht, Jeanette Aimee, Podzamczer-Valls, Iné, Domingo-Jimenez, Rosario, Ibáñez, Salvador, Alcoverro-Fortuny, Oscar, Gómez-Alemany, Teresa, de Castro, Pedro, Alfonsi, Chiara, Zafeiriou, Dimitrios I, López-Laso, Eduardo, Guder, Philipp, Santer, René, Honzík, Tomáš, Hoffmann, Georg F, Garbade, Sven F, Sivri, H Serap, Leuzzi, Vincenzo, Jeltsch, Kathrin, García-Cazorla, Angele, Opladen, Thoma, Harting, Inga

مصطلحات موضوعية: Inherited neurotransmitter disorders, monoamine, MRI, tetrahydrobiopterin deficiency

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33443316; info:eu-repo/semantics/altIdentifier/wos/WOS:000614533500001; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11573/1485450Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099973499

الإتاحة: https://doi.org/10.1002/jimd.12360Test
http://hdl.handle.net/11573/1485450Test

المؤلفون: Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thomas, Manti, Filippo, Mir, Pablo, Mühlhausen, Chris, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angeles, Opladen, Thomas

المساهمون: Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thoma, Manti, Filippo, Mir, Pablo, Mühlhausen, Chri, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angele, Opladen, Thomas

مصطلحات موضوعية: neurotransmitter disorder, dopamine, children

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34545092; info:eu-repo/semantics/altIdentifier/wos/WOS:000698606100017; volume:12; issue:1; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11573/1569596Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115881692

الإتاحة: https://doi.org/10.1038/s41467-021-25515-5Test
http://hdl.handle.net/11573/1569596Test

المؤلفون: Pearson, Toni S, Gilbert, Laura, Opladen, Thomas, Garcia-Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K H, Sykut-Cegielska, Jolanta, Pons, Roser, Mercimek-Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A, Steel, Dora, Manti, Filippo, Meeks, Kathleen D, Jeltsch, Kathrin, Flint, Lisa

المساهمون: Pearson, Toni S, Gilbert, Laura, Opladen, Thoma, Garcia-Cazorla, Angele, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K H, Sykut-Cegielska, Jolanta, Pons, Roser, Mercimek-Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thoma, Oppebøen, Mari, Kurian, Manju A, Steel, Dora, Manti, Filippo, Meeks, Kathleen D, Jeltsch, Kathrin, Flint, Lisa

مصطلحات موضوعية: dystonia-parkinsonism, gene therapy, natural history, neurotransmitter disorder, rare diseases

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32369189; info:eu-repo/semantics/altIdentifier/wos/WOS:000575169600024; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11573/1396140Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084612707

الإتاحة: https://doi.org/10.1002/jimd.12247Test
http://hdl.handle.net/11573/1396140Test

المؤلفون: Keller, Mareike, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Manti, Filippo, Julia Palacios, Natalia Alexandra, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet-Na, Zafeiriou, Dimitrios I, López-Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano-Lomelin, Jesus, Garbade, Sven F, Opladen, Thomas, Goez, Helly, International Working Group on Neurotransmitter related Disorders (iNTD), Burlina, Alberto, Cortès-Saladelafont, Elisenda, Fernández Ramos, Joaquín Alejandro, García-Cazorla, Angeles, Hoffmann, Georg F, Kiat Hong, Stacey Tay, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A, Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek-Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S, Sivri, H Serap, Steel, Dora, Stevanović, Galina, Fung, Cheuk-Wing

مصطلحات موضوعية: behavioral phenotype, cognitive impairment, iNTD, intelligence, neurotransmitter deficiencies, quality of life, Adolescent, Adult, Behavior, Child, Preschool, Cognitive Dysfunction, Female, Humans, Infant, Internationality, Male, Middle Aged, Neurotransmitter Agents, Phenotype, Registries, Young Adult

العلاقة: http://hdl.handle.net/10668/18182Test

الإتاحة: https://doi.org/10.1002/jimd.12416Test
http://hdl.handle.net/10668/18182Test