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: Jatinder Singh, Georgina Wilkins, Ella Goodman-Vincent, Samiya Chishti, Ruben Bonilla Guerrero, Leighton McFadden, Zvi Zahavi, Paramala Santosh

المصدر: Brain Sciences, Vol 14, Iss 7, p 624 (2024)

مصطلحات موضوعية: Rett Syndrome, remethylation, MTHFR, clinical severity, pharmacogenomics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3425/14/7/624; https://doaj.org/toc/2076-3425

URL الوصول: https://doaj.org/article/a3a6dbfdc6f34c109dd92ab2cbd307e9

المؤلفون: González-Lamuño Leguina, Domingo, Arrieta-Blanco, Francisco Jesús, Dios Fuentes, Elena, Forga-Visa, María Teresa, Morales-Conejo, Monstserrat, Luis Peña-Quintana, Vitoria-Miñana, Isidro

المساهمون: Universidad de Cantabria

المصدر: Nutrients, 2024, 16, 135

مصطلحات موضوعية: Homocysteine, Hyperhomocysteinemia, Homocystinuria, Inborn metabolic diseases, Transsulfuration, Remethylation, Thrombotic events, Marfanoid habitus, Ectopia lentis, Betaine

Relation: https://hdl.handle.net/10902/32002

الاتاحة: https://hdl.handle.net/10902/32002

المؤلفون: Jiannan Chen, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Xuan Guo, Jing Hu

المصدر: BMC Neurology, Vol 22, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Hereditary spastic paraplegia, Leukodystrophy, Homocysteine remethylation disorders, Hereditary ataxia, Charcot-Marie-tooth atrophy, Genetic analysis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/24383958be714b4e85dae25aa375cba6

المؤلفون: Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmin Fang-Hoffmann, Marina Morath, Gwendolyn Gramer, Wulf Röschinger, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Ulrike Mütze

المصدر: Nutrients; Volume 15; Issue 15; Pages: 3355

مصطلحات موضوعية: neonatal screening, inherited metabolic disorders, vitamin B 12 deficiency, cobalamin deficiency, propionic acidemia, remethylation disorders

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Micronutrients and Human Health; https://dx.doi.org/10.3390/nu15153355

الاتاحة: https://doi.org/10.3390/nu15153355

المؤلفون: Domingo González-Lamuño, Francisco Jesús Arrieta-Blanco, Elena Dios Fuentes, María Teresa Forga-Visa, Monstserrat Morales-Conejo, Luis Peña-Quintana, Isidro Vitoria-Miñana

المصدر: Nutrients, Vol 16, Iss 1, p 135 (2023)

مصطلحات موضوعية: homocysteine, hyperhomocysteinemia, homocystinuria, inborn metabolic diseases, transsulfuration, remethylation, Nutrition. Foods and food supply, TX341-641

Relation: https://www.mdpi.com/2072-6643/16/1/135; https://doaj.org/toc/2072-6643; https://doaj.org/article/6dca4224efcb4efbad1720bfcd0e080b

الاتاحة: https://doi.org/10.3390/nu16010135
https://doaj.org/article/6dca4224efcb4efbad1720bfcd0e080b

المؤلفون: Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Remethylation disorder, Cobalamin, Hydroxycobalamin, Subcutaneous catheter system, Subcutaneous infusion, Infusion pump, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8d5fce646f904af18efa0edc44a89bef

المؤلفون: T. Morrison, F. Bösch, M. A. Landolt, V. Kožich, M. Huemer, A. A. M. Morris

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Cystathionine beta-synthase deficiency, Remethylation disorders, Patient support groups, Patient reported outcome, Delay in diagnosis, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a78a0b9938c64bafab9b22bd892c6e63

المؤلفون: Hansashree Padmanabha, Rohan Mahale, Rita Christopher, Gautham Arunachal, Maya Bhat, Mahammad Samim Mondal, Ram Murthy Anjanappa, Ravindranadh Chowdhary Mundlamuri, Ravi Yadav, Seena Vengalil, Pooja Mailankody, Pavagada S Mathuranath, Sadanandavalli R Chandra, Atchayaram Nalini

المصدر: Annals of Indian Academy of Neurology, Vol 24, Iss 6, Pp 908-916 (2021)

مصطلحات موضوعية: hyperhomocysteinemia, metabolic myelopathy spastic paraparesis, mthfr (methylenetetrahydrofolate reductase) gene, remethylation disorders, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=6;spage=908;epage=916;aulast=Padmanabha; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/3d27f9d8a8d74fccb2d9f75e0a83f78f

المؤلفون: Lu Pang, Jian Chen, Haiyan Yu, Haiming Huang, Bo Jin, Xin Wang, Haixia Li

المصدر: Frontiers in Medicine, Vol 9 (2022)

مصطلحات موضوعية: hemolytic uremic syndrome, schistocytes, remethylation disorders, cblC, MMACHC, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.837253/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/78114c40fb8d42188defb618c65697c2

المؤلفون: Yverneau, Mathilde, Leroux, Stéphanie, Imbard, Apolline, Gleich, Florian, Arion, Alina, Moreau, Caroline, Nassogne, Marie-Cécile, Szymanowski, Marie, Tardieu, Marine, Touati, Guy, Bueno, María, Chapman, Kimberly A, Chien, Yin-Hsiu, Huemer, Martina, JeÅ¡ina, Pavel, Janssen, Mirian C H, Kölker, Stefan, Kožich, Viktor, Lavigne, Christian, Lund, Allan Meldgaard, Mochel, Fanny, Morris, Andrew, Pons, Mónica Ruiz, Porras-Hurtado, Gloria Liliana, Benoist, Jean-François, Damaj, Léna, Schiff, Manuel, E-HOD Consortium

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire

المصدر: Journal of inherited metabolic disease, Vol. 45, no.4, p. 848-861 (2022)

مصطلحات موضوعية: Cohort Studies, Homocysteine, Homocystinuria, Humans, Infant, Newborn, Methylenetetrahydrofolate Reductase (NADPH2), Muscle Spasticity, Psychotic Disorders, Retrospective Studies, EHOD, MTHFR deficiency, neurodevelopmental outcome, newborn screening, remethylation defects

Relation: boreal:278995; http://hdl.handle.net/2078.1/278995; info:pmid/35460084; urn:ISSN:0141-8955; urn:EISSN:1573-2665

الاتاحة: http://hdl.handle.net/2078.1/278995
https://doi.org/10.1002/jimd.12504

المؤلفون: Elangovan, Ramyia, Baruteau, Julien

المصدر: Frontiers in Pharmacology , 13 , Article 972468. (2022)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Pharmacology & Pharmacy, cobalamin, hydroxocobalamin, cyanocobalamin, vitamin B12, metabolic, PERNICIOUS-ANEMIA, INBORN ERROR, REMETHYLATION DISORDERS, COBALAMIN METABOLISM, ORAL TREATMENT, MUTATIONS, DIAGNOSIS, THERAPY, HOMOCYSTEINE, GUIDELINES

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158402/1/Baruteau_Inherited%20and%20acquired%20vitamin%20B12%20deficiencies_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10158402/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158402/1/Baruteau_Inherited%20and%20acquired%20vitamin%20B12%20deficiencies_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10158402/

المصدر: Journal of Cellular Biochemistry 114.1 (2013): 183-191

مصطلحات موضوعية: Biología y Biomedicina, Homocysteine, Homocystinuria, Remethylation, ROS

URL الوصول: http://hdl.handle.net/10486/12959

المؤلفون: T. Morrison (10287057), F. Bösch (10287060), M. A. Landolt (10287063), V. Kožich (10287066), M. Huemer (10287069), A. A. M. Morris (10287072)

مصطلحات موضوعية: Medicine, Immunology, Cancer, Mental Health, Computational Biology, Biological Sciences not elsewhere classified, Cystathionine beta-synthase deficiency, Remethylation disorders, Patient support groups, Patient reported outcome, Delay in diagnosis

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Homocystinuria_patient_and_caregiver_survey_experiences_of_diagnosis_and_patient_satisfaction/14196759

الاتاحة: https://doi.org/10.6084/m9.figshare.14196759.v1

المؤلفون: Nechyporuk, V. M., Zaichko, N. V., Korda, М. М.

المصدر: Medical and Clinical Chemistry; No. 1 (2017); 12-18 ; Медицинская и клиническая химия; № 1 (2017); 12-18 ; Медична та клінічна хімія; № 1 (2017); 12-18 ; 2414-9934 ; 2410-681X ; 10.11603/mcch.2410-681X.2017.v0.i1

مصطلحات موضوعية: thyroid hormones, sulfur-containing amino acids, remethylation cycle, transsulfuration pathway, mocysteine, cysteine, hydrogen sulfide, тиреоидные гормоны, серосодержащие аминокислоты, цикл реметилирования, путь транссульфурирования, гомоцистеин, цистеин, гидроген сульфид, тиреоїдні гормони, сірковмісні амінокислоти, цикл реметилування, шлях транссульфування, гомоцистеїн, цистеїн, гідроген сульфід

وصف الملف: application/pdf

Relation: https://ojs.tdmu.edu.ua/index.php/MCC/article/view/7689/7136; https://ojs.tdmu.edu.ua/index.php/MCC/article/view/7689

الاتاحة: https://ojs.tdmu.edu.ua/index.php/MCC/article/view/7689
https://doi.org/10.11603/mcch.2410-681X.2017.v0.i1.7689

المؤلفون: Nechiporuk, V. M., Zaichko, N. V., Melnik, A. V., Strutyska, E. B., Korda, M. M.

المصدر: Medical and Clinical Chemistry; No. 1 (2019); 103-112 ; Медицинская и клиническая химия; № 1 (2019); 103-112 ; Медична та клінічна хімія; № 1 (2019); 103-112 ; 2414-9934 ; 2410-681X ; 10.11603/mcch.2410-681X.2019.v0.i1

مصطلحات موضوعية: thyroid hormones, sulfur-containing amino acids, remethylation cycle, transsulfuration pathway, homocysteine, cysteine, hydrogen sulfide, тиреоидные гормоны, серосодержащие аминокислоты, цикл реметилирования, путь транссульфурирования, гомоцистеин, цистеин, гидроген сульфид, тиреоїдні гормони, сірковмісні амінокислоти, цикл реметилування, шлях трансульфування, гомоцистеїн, цистеїн, гідроген сульфід

وصف الملف: application/pdf

Relation: https://ojs.tdmu.edu.ua/index.php/MCC/article/view/10028/9597; https://ojs.tdmu.edu.ua/index.php/MCC/article/view/10028

الاتاحة: https://ojs.tdmu.edu.ua/index.php/MCC/article/view/10028
https://doi.org/10.11603/mcch.2410-681X.2019.v0.i1.10028

المؤلفون: Nechiporuk, V. M., Korda, M. M., Zaichko, N. V., Melnik, A. V., Ostrenyuk, R. S.

المصدر: Bulletin of Scientific Research; No. 1 (2019); 97-102 ; Вестник научных исследований; № 1 (2019); 97-102 ; Вісник наукових досліджень; № 1 (2019); 97-102 ; 2415-8798 ; 1681-276X ; 10.11603/2415-8798.2019.1

مصطلحات موضوعية: thyroid hormones, sulfur-containing amino acids, remethylation process, desulphurisation process, homocysteine, cysteine, тиреоидные гормоны, серосодержащие аминокислоты, процесс реметилирования, процесс десульфурирования, гомоцистеин, цистеин, тереоїдні гормони, сірковмісні амінокислоти, процес реметилування, процес десульфурування, гомоцистеїн, цистеїн

وصف الملف: application/pdf

Relation: https://ojs.tdmu.edu.ua/index.php/visnyk-nauk-dos/article/view/10029/9720; https://ojs.tdmu.edu.ua/index.php/visnyk-nauk-dos/article/view/10029; https://repository.tdmu.edu.ua//handle/123456789/12810

الاتاحة: https://repository.tdmu.edu.ua//handle/123456789/12810
https://ojs.tdmu.edu.ua/index.php/visnyk-nauk-dos/article/view/10029
https://doi.org/10.11603/2415-8798.2019.1.10029

المؤلفون: Richard, Eva, Brasil, Sandra, Leal, Fátima, Navarrete, Rosa, Vega, Ana, Ecay, María Jesús, Desviat, Lourdes R., Pérez-Cerda, Celia, Ugarte, Magdalena, Merinero, Begoña, Pérez, Belén

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2017 5

مصطلحات موضوعية: remethylation disorders, oxidative stress, massive parallel sequencing, homocysteine, vitamin B12

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100401

المؤلفون: Hua Jiang, K. Joseph Hurt, Kelsey Breen, Sally P. Stabler, Robert H. Allen, David J. Orlicky, Kenneth N. Maclean

المصدر: Biology Open, Vol 4, Iss 9, Pp 1154-1162 (2015)

مصطلحات موضوعية: Cystathionine γ-lyase, Hydrogen sulfide, Cystathionine β-synthase, Homocystinuria, Remethylation defect, Methionine synthase, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://bio.biologists.org/content/4/9/1154; https://doaj.org/toc/2046-6390

URL الوصول: https://doaj.org/article/1692606761634b208e65e38a27e0da6c

المؤلفون: Kamil Biringer, Marek Samec, Dietrich Büsselberg, Alena Mazurakova, Samson Mathews Samuel, Peter Kubatka, Olga Golubnitschaja, Lenka Koklesova

المصدر: The EPMA Journal

مصطلحات موضوعية: Folate, Homocysteine, Vitamin B6 and B12, Transsulfuration, Review, Blood plasma, Bioinformatics, Systemic inflammation, Coronary artery disease, chemistry.chemical_compound, Drug Discovery, Myocardial infarction, Endothelial dysfunction, Primary, secondary, and tertiary care, DNA methylation, Ischemic stroke, Dietary habits, Prognosis, Hyperhomocysteinemia (HHcy), Health policy, Diagnostic and treatment targets, Mitochondrial impairment, Amino acids, Epigenetics, medicine.symptom, Cancers, Hyperhomocysteinemia, Cellular senescence, Health risk assessment, medicine, Remethylation, Genetics, Nutrition, Inflammation, Molecular pathways, Impaired healing, business.industry, Biochemistry (medical), Predictive Preventive Personalized Medicine (PPPM/3PM), Proteins, COVID-19, medicine.disease, Cardiovascular risk, Systemic effects, Metabolism, chemistry, Pregnancy complications, Oxidative stress, Eye disorder, business, Neurological disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770551ec1088567ec737b988844da200
http://europepmc.org/articles/PMC8581606