المؤلفون: Patrícia Lipari Pinto, Marjorie Dixon, Sniya Sudhakar, Ivo Baric, Julien Baruteau

المصدر: JIMD Reports, Vol 65, Iss 6, Pp 371-381 (2024)

مصطلحات موضوعية: AHCY gene, hepatocellular carcinoma, hypermethioninemia, S‐adenosylhomocysteine, S‐adenosylhomocysteine hydrolase deficiency, S‐adenosylmethionine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/6764affc2f38476a9cb187ec474876ad

المؤلفون: Loukia Touramanidou, Sonam Gurung, Claudiu A. Cozmescu, Dany Perocheau, Dale Moulding, Patrick F. Finn, Andrea Frassetto, Simon N. Waddington, Paul Gissen, Julien Baruteau

المصدر: Cells, Vol 13, Iss 23, p 1979 (2024)

مصطلحات موضوعية: gene therapy, AAV, LNP mRNA, lentiviral vector, LV, macrophages, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/23/1979; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/013dd91f64db4e359881d03982e919bc

المؤلفون: Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

المصدر: JIMD Reports, Vol 64, Iss 5, Pp 317-326 (2023)

مصطلحات موضوعية: glycerol phenylbutyrate, hyperammonaemia, Ravicti, sodium benzoate, sodium phenylbutyrate, urea cycle disorders, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/cb4630541705478ab681b28299176d20

المؤلفون: Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju Kurian, Paul Gissen, Julien Baruteau

المصدر: Stem Cell Research, Vol 76, Iss , Pp 103365- (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124000631; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/d3fd767ff3ea4c0fb07289f442e5f9bd

المؤلفون: Andrea Frassetto, Julien Baruteau, Lisa Rice, Paolo G.V. Martini, Alex Cavedon, Summar Siddiqui, Neil Sebire, Patrick F Finn, Claire Duff, Garima Sharma, Sonam Gurung, Loukia Touramanidou, Dany Perocheau

المصدر: F1000Research, Vol 12 (2024)

مصطلحات موضوعية: precision-cut tissue slices, vibratome, liver, urea cycle, Argininosuccinic aciduria, Citrullinemia type 1, eng, Medicine, Science

وصف الملف: electronic resource

Relation: https://f1000research.com/articles/12-1580/v2; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/f300c8c9470e494e8be8d47def6c31a2

المؤلفون: Abigail Whitehouse, Preeya Rehsi, Louise Hartley, Stephanie Grunewald, Berna Seker Yilmaz, Kelly Pegoretti Baruteau, Ayhan Yaman, Suren Thavagnanam, Julien Baruteau

المصدر: JIMD Reports, Vol 64, Iss 4, Pp 274-281 (2023)

مصطلحات موضوعية: CblG, cobalamin, homocysteine, inherited metabolic disease, isolated remethylation defect, MTHFR, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/66c11afb48324ab3ad01b514a9c34170

المؤلفون: Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen

المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101020- (2023)

مصطلحات موضوعية: Liver transplantation, Ornithine transcarbamylase deficiency, Metabolic correction, Neurological outcome, Growth, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000666; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/4b378179f00043a097ba2e977f075d5f

المؤلفون: Claire Duff, Julien Baruteau

المصدر: npj Regenerative Medicine, Vol 7, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2057-3995

URL الوصول: https://doaj.org/article/102d60ad66214f22b286647e9bdcb583

المؤلفون: Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

المصدر: JIMD Reports, Vol 63, Iss 2, Pp 137-145 (2022)

مصطلحات موضوعية: glycerol phenylbutyrate, hyperammonaemia, liquid sodium benzoate, urea cycle disorders, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/15e4a12d942640829b4d39a2b6c7adb6

المؤلفون: Julien Baruteau, Sharon C. Cunningham, Berna Seker Yilmaz, Dany P. Perocheau, Simon Eaglestone, Derek Burke, Adrian J. Thrasher, Simon N. Waddington, Leszek Lisowski, Ian E. Alexander, Paul Gissen

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 135-146 (2021)

مصطلحات موضوعية: adeno-associated virus, ornithine transcarbamylase deficiency, engineered capsid, biodistribution, liver, AAV, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S232905012100142X; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/10be24db36dd4d05b36ea1c89d212f01

المؤلفون: Ramyia Elangovan, Julien Baruteau

المصدر: Frontiers in Pharmacology, Vol 13 (2022)

مصطلحات موضوعية: cobalamin, hydroxocobalamin, cyanocobalamin, vitamin B12, metabolic, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2022.972468/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/d61cbe5739164d9cbe470b49ac02def4

المؤلفون: Sonam Gurung, Dany Perocheau, Loukia Touramanidou, Julien Baruteau

المصدر: Cell Communication and Signaling, Vol 19, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: Exosomes, Extracellular vesicles, Intercellular communication, Targeting, Multivesicular bodies, Tetraspanins, Medicine, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1478-811X

URL الوصول: https://doaj.org/article/67312e10ddd846b5983bbf8e4658272d

المؤلفون: Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés F Muro, Julien Baruteau, Nicola Brunetti‐Pierri

المصدر: EMBO Molecular Medicine, Vol 13, Iss 2, Pp 1-14 (2020)

مصطلحات موضوعية: argininosuccinic aciduria, autophagy, OTC deficiency, Tat‐Beclin‐1 peptide, urea cycle disorders, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/19085dda865a4f648e70bb866bfbf0bc

المؤلفون: Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen

المصدر: Life, Vol 12, Iss 11, p 1721 (2022)

مصطلحات موضوعية: ornithine transcarbamylase deficiency, hyperammonaemia, neonatal-onset, late-onset, asymptomatic, protein restriction, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/12/11/1721; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/800ce92a6de9427e948d1938b211e04c

المؤلفون: John R. Counsell, Rajvinder Karda, Juan Antinao Diaz, Louise Carey, Tatiana Wiktorowicz, Suzanne M.K. Buckley, Shima Ameri, Joanne Ng, Julien Baruteau, Filipa Almeida, Rohan de Silva, Roberto Simone, Eleonora Lugarà, Gabriele Lignani, Dirk Lindemann, Axel Rethwilm, Ahad A. Rahim, Simon N. Waddington, Steven J. Howe

المصدر: Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 626-634 (2018)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S216225311830146X; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/6238edf25cf544478737c499f40dbd36

المؤلفون: Julien Baruteau, Dany P. Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Rajvinder Karda, Joanne Ng, Natalie Suff, Juan Antinao Diaz, Ahad A. Rahim, Michael P. Hughes, Blerida Banushi, Helen Prunty, Mariya Hristova, Deborah A. Ridout, Alex Virasami, Simon Heales, Stewen J. Howe, Suzanne M. K. Buckley, Philippa B. Mills, Paul Gissen, Simon N. Waddington

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/bccd48b998f7466b8b4e37f6409acdb2

المؤلفون: Natalie Suff, Rajvinder Karda, Juan Antinao Diaz, Joanne Ng, Julien Baruteau, Dany Perocheau, Peter W. Taylor, Dagmar Alber, Suzanne M. K. Buckley, Mona Bajaj-Elliott, Simon N. Waddington, Donald Peebles

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: cervix, gene therapy, preterm birth, antimicrobial peptides, ascending infection, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2020.00106/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/87c4c20edc5c4f4ab1b9aa0b4309858a

المؤلفون: Giulia Massaro, Amy F. Geard, Wenfei Liu, Oliver Coombe-Tennant, Simon N. Waddington, Julien Baruteau, Paul Gissen, Ahad A. Rahim

المصدر: Biomolecules, Vol 11, Iss 4, p 611 (2021)

مصطلحات موضوعية: lysosomal diseases, gene therapy, viral vectors, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/11/4/611; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/0d64169604c944538a096cbb0b3f671b

المؤلفون: Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Maureen Cleary, James Davison, Emma Footitt, Simon N. Waddington, Paul Gissen, Philippa Mills

المصدر: Metabolites, Vol 9, Iss 11, p 275 (2019)

مصطلحات موضوعية: tandem mass spectrometry, dried blood spots, urea cycle, amino acids, argininosuccinate lyase, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/9/11/275; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/b37464dd2746486582cd7f094e19969b

المؤلفون: Berna Seker Yilmaz, Julien Baruteau, Ahad A. Rahim, Paul Gissen

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 14; Pages: 5059

مصطلحات موضوعية: Niemann Pick disease type C, early infantile onset, neurological manifestations

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms21145059

الاتاحة: https://doi.org/10.3390/ijms21145059