المؤلفون: Skvorak, KJ, Dorko, K, Marongiu, F, Tahan, V, Hansel, MC, Gramignoli, R, Gibson, KM, Strom, SC

المصدر: Hepatology (Baltimore, Md.). 57(3):1017-1023

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:126371883

المؤلفون: Skvorak, KJ, Paul, HS, Dorko, K, Marongiu, F, Ellis, E, Chace, D, Ferguson, C, Gibson, KM, Homanics, GE, Strom, SC

المصدر: Molecular therapy : the journal of the American Society of Gene Therapy. 17(7):1266-1273

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:119061176

المؤلفون: Latzer IT, Bertoldi M, Blau N, Di Bacco ML, Elsea SH, García-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HCH, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL

المساهمون: Latzer, I, Bertoldi, M, Blau, N, Di Bacco, M, Elsea, S, García-Cazorla, A, Gibson, K, Gropman, A, Hanson, E, Hoffman, C, Jeltsch, K, Juliá-Palacios, N, Knerr, I, Lee, H, Malaspina, P, Mcconnell, A, Opladen, T, Oppebøen, M, Rotenberg, A, Walterfang, M, Wang-Tso, L, Wevers, R, Roullet, J, Pearl, P

مصطلحات موضوعية: GABA, Inherited metabolic disorder, Management, Neurotransmitter, Recommendation, SSADH, Settore BIO/18

Relation: info:eu-repo/semantics/altIdentifier/pmid/38452608; info:eu-repo/semantics/altIdentifier/wos/WOS:001250886900001; volume:142; issue:1; numberofpages:13; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/2108/365144; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187407383

الاتاحة: https://hdl.handle.net/2108/365144
https://doi.org/10.1016/j.ymgme.2024.108363

المؤلفون: Skvorak, KJ, Dorko, K, Marongiu, F, Tahan, V, Hansel, MC, Gramignoli, R, Arning, E, Bottiglieri, T, Gibson, KM, Strom, SC

المصدر: Molecular genetics and metabolism. 109(2):132-138

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:127000752

المؤلفون: Vanadia, E, Gibson, KM, Pearl, PL, Trapolino, E, Vanadia, F., MANGANO, Salvatore

المساهمون: Vanadia, E, Gibson, KM, Pearl, PL, Trapolino, E, Mangano, S, Vanadia, F

مصطلحات موضوعية: THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE IN SUCCINIC SEMIALDEHYDE DEHYDROGENASE, MAGNESIUM VALPROATE

Relation: ispartofbook:Journal of Inherited Metabolic Disease; Annual Symposium of the Society for the Study of Inborn Errors of Metabolism; issue:35(Suppl 1):S1–S182; firstpage:140; lastpage:140; numberofpages:1; http://hdl.handle.net/10447/78155

الاتاحة: http://hdl.handle.net/10447/78155
https://doi.org/10.1007/s10545-012-9512-z

المؤلفون: Vanadia E, Gibson KM, Pearl PL, Trapolino E, Vanadia F. ., MANGANO, Salvatore

المساهمون: Vanadia E, Gibson KM, Pearl PL, Trapolino E, Mangano S, Vanadia F .

مصطلحات موضوعية: SSADHD, GABA,MgVPA, Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000307513100490; volume:8; issue:5; firstpage:133; lastpage:137; numberofpages:4; journal:JIMD REPORTS; http://hdl.handle.net/10447/78518

الاتاحة: http://hdl.handle.net/10447/78518
https://doi.org/10.1007/8904_2012_170

المؤلفون: Bixler Sl, Joshua A. Johnson, Keersten M. Ricks, Gibson Km, Ondraya Frick, Pitt Mlm, David N Dyer, Franco Rossi, Moreau Am, Jeffrey M. Smith, Timothy D. Minogue, Heather L. Esham, Bloomfield H, Aysegul Nalca, Kuehnert Pa, Xiankun Zeng, DiPinto N, Jun Liu, Delp Kl, Jeffrey W. Koehler, Alexandra Jay, Tostenson S, Charles J. Shoemaker, Kristen Akers, Brian J. Kearney, Kerry Berrier, Coyne, Jay W. Hooper, Christopher P. Stefan, Clements Tl

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Respiratory disease, Severe disease, Disease, medicine.disease, Nonhuman primate, medicine, Clinical endpoint, Small particles, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5a035ab654f8b3aa052b6f0bce759636
https://doi.org/10.1101/2021.04.27.441510

المؤلفون: Syrmis, MW, Kidd, TJ, Moser, RJ, Ramsay, KA, Gibson, KM, Anuj, S, Bell, SC, Wainwright, CE, Grimwood, K, Nissen, M, Sloots, TP, Whiley, DM

مصطلحات موضوعية: Microbiology, Clinical sciences, Medical microbiology, Public health

وصف الملف: application/pdf

Relation: BMC Infectious Diseases; http://hdl.handle.net/10072/66925

الاتاحة: http://hdl.handle.net/10072/66925
https://doi.org/10.1186/1471-2334-14-307

المؤلفون: Akers Ks, Keersten M. Ricks, Andrew S. Herbert, Timothy D. Minogue, Jeffrey W. Koehler, Jay W. Hooper, Sara C. Johnston, Gibson Km, Kuehnert Pa, Delp Kl, Brett Beitzel, Kugelman, Cecilia M. O’Brien, Clements Tl, Charles J. Shoemaker, Jeffrey M. Smith, Ana I. Kuehne, John M. Dye, Coyne

مصطلحات موضوعية: medicine.medical_specialty, Animal model, Coronavirus disease 2019 (COVID-19), business.industry, Disease outcome, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Animal disease, medicine, African Green Monkey, Viral disease, Intensive care medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d923069056f1fecaf87aee7cf9da6187
https://doi.org/10.1101/2020.07.06.189803

المؤلفون: Di Rosa, G, Dionisi Vici, C, Rizzo, C, Tortorella, G, Crutchfield, SR, Gibson, KM, MALASPINA, PATRIZIA, BLASI, PAOLA

المساهمون: Di Rosa, G, Malaspina, P, Blasi, P, Dionisi Vici, C, Rizzo, C, Tortorella, G, Crutchfield, S, Gibson, K

مصطلحات موضوعية: SSADH deficiency, GABA metabolism, Settore BIO/18 - GENETICA

Relation: journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/2108/8757; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-66149124455&partnerID=40&md5=817cb046b2737fac0f5e2043509b6de0

الاتاحة: http://hdl.handle.net/2108/8757
https://doi.org/10.1007/s10545-009-1154-4

المؤلفون: MALASPINA, PATRIZIA, Picklo, MJ, Jakobs, C, Snead, OC, Gibson, KM

المساهمون: Malaspina, P, Picklo, M, Jakobs, C, Snead, O, Gibson, K

مصطلحات موضوعية: Succinate-Semialdehyde Dehydrogenase, Genomic, Polymorphism, Genetic, Mice, Genetic Variation, Sodium Oxybate, Promoter Regions, Animal, Genetic Predisposition to Disease, Humans, Settore BIO/18 - GENETICA

Relation: volume:3; issue:2; firstpage:106-20; journal:HUMAN GENOMICS; http://hdl.handle.net/2108/8758; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-65249092500

الاتاحة: http://hdl.handle.net/2108/8758

المؤلفون: Philippe, A, MA, J Deron, MD, D Geneviève, de Lonlay, P, Gibson, KM, Rabier, D, Munnich, A

المصدر: Developmental Medicine & Child Neurology ; volume 46, issue 8, page 564-568 ; ISSN 0012-1622 1469-8749

الاتاحة: http://dx.doi.org/10.1111/j.1469-8749.2004.tb01015.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1469-8749.2004.tb01015.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1469-8749.2004.tb01015.x

المؤلفون: Akaboshi, S, Hogema, BM, Salomons, GS, Maropoulos, GD, Jakobs, C, Grompe, M, Gibson, KM, NOVELLETTO, ANDREA, MALASPINA, PATRIZIA

المساهمون: Akaboshi, S, Hogema, B, Novelletto, A, Malaspina, P, Salomons, G, Maropoulos, G, Jakobs, C, Grompe, M, Gibson, K

مصطلحات موضوعية: complementary DNA, gene product, succinate semialdehyde dehydrogenase, ALDH5A1 gene, article, controlled study, disease severity, embryo, enzyme activity, enzyme deficiency, gene, gene function, gene insertion, gene mutation, human, human cell, major clinical study, missense mutation, multigene family, nucleotide sequence, pathogenesi, phenotype, point mutation, priority journal, succinate semialdehyde dehydrogenase deficiency, Aldehyde Oxidoreductase, Cell Line, Codon, Nonsense, DNA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000187002300004; volume:22; issue:6; firstpage:442; lastpage:450; journal:HUMAN MUTATION; http://hdl.handle.net/2108/48106; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0346993682

الاتاحة: http://hdl.handle.net/2108/48106
https://doi.org/10.1002/humu.10288

المؤلفون: Chambliss, KL, Hinson, DD, Trettel, F, Jakobs, C, Gibson, KM, MALASPINA, PATRIZIA, NOVELLETTO, ANDREA

المساهمون: Chambliss, K, Hinson, D, Trettel, F, Malaspina, P, Novelletto, A, Jakobs, C, Gibson, K

مصطلحات موضوعية: 4 aminobutyric acid, 4 hydroxybutyric acid, succinate semialdehyde dehydrogenase, 4 aminobutyric acid metabolism, aciduria, article, autosomal recessive inheritance, controlled study, enzyme deficiency, exon, female, gene deletion, gene sequence, human, human cell, major clinical study, male, nucleotide sequence, point mutation, priority journal, RNA splicing, transcription termination, Aldehyde Oxidoreductase, Amino Acid Sequence, Base Sequence, Cells, Cultured, Consanguinity, Heterozygote Detection, Hydroxybutyrate

Relation: volume:63; issue:2; firstpage:399; lastpage:408; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2108/44419

الاتاحة: http://hdl.handle.net/2108/44419
https://doi.org/10.1086/301964

المؤلفون: Burlina Ab, Gibson Km, Ruitenbeek W, Bonafe L, Bennett Mj. “profound Neurological, Hashimoto T, Orii T, Kondo N. “characterization Of Ns, Ap Missense Mutations

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.idph.state.ia.us/genetics/common/pdf/bkt_ref.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.537.6251; http://www.idph.state.ia.us/genetics/common/pdf/bkt_ref.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.537.6251
http://www.idph.state.ia.us/genetics/common/pdf/bkt_ref.pdf

المؤلفون: Gibson, KM, Hoffmann, G, Schwall, A, Broock, RL, Aramaki, S, Sweetman, L, Nyhan, WL, Brandt, IK, Wappner, RS, Lehnert, W

المصدر: Journal of Lipid Research ; volume 31, issue 3, page 515-521 ; ISSN 0022-2275

الاتاحة: http://dx.doi.org/10.1016/s0022-2275(20)43173-6
https://api.elsevier.com/content/article/PII:S0022227520431736?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022227520431736?httpAccept=text/plain

المؤلفون: Skvorak KJ, Dorko K, Tahan V, Hansel MC, Gramignoli R, Gibson KM, Strom SC, MARONGIU, FABIO

المساهمون: Skvorak, Kj, Dorko, K, Marongiu, Fabio, Tahan, V, Hansel, Mc, Gramignoli, R, Gibson, Km, Strom, Sc

Relation: ispartofbook:Abstract Book; Second Bi-annual Meeting of the International Placenta Stem Cell Society (IPLASS); http://hdl.handle.net/11584/69706

الاتاحة: http://hdl.handle.net/11584/69706

المؤلفون: Skvorak KJ, Dorko K, Hansel M, Tahan V, Gibson KM, Sun Q, Bottiglieri T, Arning E, Vockley G, Davila JC, Strom SC, MARONGIU, FABIO

المساهمون: Skvorak, Kj, Dorko, K, Hansel, M, Marongiu, Fabio, Tahan, V, Gibson, Km, Sun, Q, Bottiglieri, T, Arning, E, Vockley, G, Davila, Jc, Strom, Sc

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000288775600187; ispartofbook:Hepatology: 61st Annual Meeting of the American Association for the Study of Liver Diseases (AASLD 2010); 61st Annual Meeting of the American Association for the Study of Liver Diseases (AASLD 2010); http://hdl.handle.net/11584/89881

الاتاحة: http://hdl.handle.net/11584/89881

المؤلفون: Vogel, KR, Ainslie, GR, Pearl, PL, Gibson, KM

المساهمون: NIH

المصدر: Clinical Pharmacology & Therapeutics ; volume 101, issue 4, page 458-461 ; ISSN 0009-9236 1532-6535

الاتاحة: http://dx.doi.org/10.1002/cpt.581
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fcpt.581
https://ascpt.onlinelibrary.wiley.com/doi/pdf/10.1002/cpt.581

المؤلفون: Vogel, KR, Ainslie, GR, Roullet, J-B, McConnell, A, Gibson, KM

المساهمون: National Institute of Neurological Disorders and Stroke

المصدر: Toxicology in Vitro ; volume 40, page 196-202 ; ISSN 0887-2333

الاتاحة: http://dx.doi.org/10.1016/j.tiv.2017.01.013
https://api.elsevier.com/content/article/PII:S0887233317300152?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0887233317300152?httpAccept=text/xml