المؤلفون: Tomoyo Itonaga, Miwako Maeda, Hiroshi Koga, Yuki Hasegawa, Kenji Ihara

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101024- (2024)

مصطلحات موضوعية: 3-methylglutaconic aciduria type 1 (MGGA1), C5-OH, Newborn screening, Asymptomatic, AUH gene, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000708Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/d4c4edb9e34f4286b3a2290ba59f27beTest

المؤلفون: Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill

المصدر: JIMD Reports, Vol 63, Iss 5, Pp 420-424 (2022)

مصطلحات موضوعية: 3‐methylglutaconic aciduria, mitochondrial dysfunction, N‐acetylglutamate synthase deficiency, Urea cycle disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/baa9a26fcbdc464fb979306bb62699ecTest

المؤلفون: Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair, Majid Alfadhel

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)

مصطلحات موضوعية: 3‐methylglutaconic aciduria, cardiolipin, dilated cardiomyopathy, DNAJC19, global developmental delay, homozygous, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/24ff3b1c93b5491089cb4bf443c751b5Test

المؤلفون: Dylan E. Jones, J. David Ricker, Laina M. Geary, Dylan K. Kosma, Robert O. Ryan

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 61-69 (2021)

مصطلحات موضوعية: 3‐methylglutaconic aciduria, cis:trans isomerization, gas chromatography‐mass spectrometry, inborn errors of metabolism, mitochondria, NMR spectroscopy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/b95bbbdea9ef423b9322445c044fad90Test

المؤلفون: Dandan Yan, Shaopei Chen, Fengying Cai, Jianbo Shu, Xiufang Zhi, Jie Zheng, Chunhua Zhang, Dong Li, Chunquan Cai

المصدر: Frontiers in Pediatrics, Vol 9 (2022)

مصطلحات موضوعية: SERAC1, complicated hereditary spastic paraplegia, novel variant, MEGDEL syndrome, 3-methylglutaconic aciduria, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.816265/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/5d3e7ddb40a846bdba4f0ab3d85d20ebTest

المؤلفون: Nardecchia F., Caciotti A., Giovanniello T., De Leo S., Ferri L., Galosi S., Santagata S., Torres B., Bernardini L., Carducci C., Morrone A., Leuzzi V.

المساهمون: Nardecchia, F., Caciotti, A., Giovanniello, T., De Leo, S., Ferri, L., Galosi, S., Santagata, S., Torres, B., Bernardini, L., Carducci, C., Morrone, A., Leuzzi, V.

مصطلحات موضوعية: 3-methylglutaconic aciduria type I, 3-methylglutaconyl-coenzyme A hydratase (MGH) deficiency, 3-OH-isovalerylcarnitine, AUH defect, case report, newborn screening, Female, Human, Infant, Newborn, Neonatal Screening, Phenotype, Metabolism, Inborn Errors

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35457240; info:eu-repo/semantics/altIdentifier/wos/WOS:000785245200001; volume:23; issue:8; firstpage:4422; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1632462Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128272345

الإتاحة: https://doi.org/10.3390/ijms23084422Test
http://hdl.handle.net/11573/1632462Test

المؤلفون: Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, Sabrina De Leo, Lorenzo Ferri, Serena Galosi, Silvia Santagata, Barbara Torres, Laura Bernardini, Claudia Carducci, Amelia Morrone, Vincenzo Leuzzi

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 8; Pages: 4422

مصطلحات موضوعية: 3-methylglutaconyl-coenzyme A hydratase (MGH) deficiency, 3-methylglutaconic aciduria type I, AUH defect, 3-OH-isovalerylcarnitine, newborn screening, case report

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23084422Test

الإتاحة: https://doi.org/10.3390/ijms23084422Test

المؤلفون: Margarida Paiva Coelho, Joana Correia, Aureliano Dias, Célia Nogueira, Anabela Bandeira, Esmeralda Martins, Laura Vilarinho

المصدر: JIMD Reports, Vol 49, Iss 1, Pp 11-16 (2019)

مصطلحات موضوعية: 3‐methylglutaconic aciduria, Fe‐S clusters, ISD11, LYRM4, mitochondrial disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/c9ae8f1531444b8b8bb4b39c32c3ead2Test

المؤلفون: Fellman, Vineta, Banerjee, Rishi, Lin, Kai-Lan, Pulli, Ilari, Cooper, Helen, Tyynismaa, Henna, Kallijärvi, Jukka

المساهمون: Clinicum, Doctoral Programme in Biomedicine, HUS Children and Adolescents, Research Services, Institute for Molecular Medicine Finland, University of Helsinki, Research Programs Unit, Department of Medical and Clinical Genetics, STEMM - Stem Cells and Metabolism Research Program, Henna Tyynismaa / Principal Investigator, Centre of Excellence in Stem Cell Metabolism, Doctoral Programme in Clinical Research, Doctoral Programme Brain & Mind, Doctoral Programme in Integrative Life Science, Biosciences

مصطلحات موضوعية: Mitochondrial disease, Newborn infant, Respiratory chain, Endoplasmic reticulum, Cholesterol trafficking, MEGDEL SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, DEAFNESS, DEFICIENCY, DYSTONIA, ENCEPHALOPATHY, DYSFUNCTION, 1182 Biochemistry, cell and molecular biology

وصف الملف: application/pdf

العلاقة: The study was supported by grants from Lund University (VF), the Swedish Research Council (521-2014-3219, VF), Finska Lakaresallskapet (VF), and Folkhalsan Research Center (VF, JK).; Fellman , V , Banerjee , R , Lin , K-L , Pulli , I , Cooper , H , Tyynismaa , H & Kallijärvi , J 2022 , ' Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 ' , Biochimica et Biophysica Acta. Molecular Basis of Disease , vol. 1868 , no. 1 , 166298 . https://doi.org/10.1016/j.bbadis.2021.166298Test , https://doi.org/10.1016/j.bbadis.2021.166298Test; ORCID: /0000-0002-2493-2422/work/104768686; ORCID: /0000-0003-3773-7025/work/104770870; openairecerif: 055d05b4-66ad-4868-8314-5e8c6fd49767; 85118593330; f07065fb-7138-406d-ba08-5bd4305f788c; http://hdl.handle.net/10138/337458Test; 000717315700007

الإتاحة: http://hdl.handle.net/10138/337458Test

المؤلفون: Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100691- (2020)

مصطلحات موضوعية: 3-MGA-I, 3-methylglutaconic aciduria type 1, Precocious puberty, AUH gene, GnRH agonist, Triptorelin, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920301373Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/5bda639214e8416889991c2ddf301f47Test