المؤلفون: Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022)

مصطلحات موضوعية: 5‐formyltetrahydrofolic acid, cerebral folate deficiency, folate receptor 1, folinic acid, Kearns‐Sayre syndrome, methylenetetrahydrofolate reductase deficiency, 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/5777a91eae754e17a852a102daa09081Test

المؤلفون: Salam Massadeh, Muhammad Umair, Manal Alaamery, Majid Alfadhel

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: MTHFR, non-sense mutation, white matter disease, microcephaly, severe methylenetetrahydrofolate reductase deficiency, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00411/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/18241ca27f584c8e8d6fbce1b8684d2dTest

المؤلفون: AL-Eitan LN, Al-Dalalah IM, Mustafa MM, Alghamdi MA, Elshammari AK, Khreisat WH, Aljamal HA

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 12, Pp 87-95 (2019)

مصطلحات موضوعية: Methylenetetrahydrofolate reductase deficiency, Epilepsy, Pharmacogenetics, Tonic- clonic epilepsy, Psychotic disorders, Therapeutics. Pharmacology, RM1-950

العلاقة: https://www.dovepress.com/effects-of-mthfr-and-abcc2-gene-polymorphisms-on-antiepileptic-drug-re-peer-reviewed-article-PGPMTest; https://doaj.org/toc/1178-7066Test; https://doaj.org/article/ed2d54bb81c1482c877ef5f569e421f1Test

الإتاحة: https://doaj.org/article/ed2d54bb81c1482c877ef5f569e421f1Test

المؤلفون: Céline Bürer, Viktor Kozich, D. Sean Froese, Jochen Weile, Song Sun, Marinella Gebbia, Nishka Kishore, Robert L. Nussbaum, Iosifina Fotiadou, David Watkins, Alexander Holenstein, Ranim Maaieh, Roujia Li, Michael Garton, Rima Rozen, Linnea Blomgren, Shan Yang, Frederick P. Roth, Yingzhou Wu, Marta Verby, Julia Kitaygorodsky

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: Genotype, Methylenetetrahydrofolate reductase deficiency, Folate Metabolism, DNA Mutational Analysis, Mutation, Missense, Homocystinuria, Saccharomyces cerevisiae, folate, Article, homocystinuria, 03 medical and health sciences, 0302 clinical medicine, deep mutational scanning, Dietary folate, Genetics, medicine, Humans, Missense mutation, variant effect mapping, Methylenetetrahydrofolate Reductase (NADPH2), Genetics (clinical), Gene Library, 030304 developmental biology, mthfr, 0303 health sciences, biology, clinical variant interpretation, cystathionine beta synthase, medicine.disease, Diploidy, methylenetetrahydrofolate reductase, Cystathionine beta synthase, Phenotype, molecular dynamics, digestive system diseases, Amino Acid Substitution, Methylenetetrahydrofolate reductase, gene- environment interaction, biology.protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1b7fb137ff7cfb59d628fe70d842d6Test
https://doi.org/10.1016/j.ajhg.2021.05.009Test

المؤلفون: Aydogan Aydogdu, Cem Haymana, Kamil Baskoy, Ali H Durukan, Gokhan Ozgur, Omer Azal

المصدر: Journal of Research in Medical Sciences, Vol 19, Iss 1, Pp 75-79 (2014)

مصطلحات موضوعية: Choroidal neovascularization, drug therapy, hypopituitarism, intravitreal injections, methylenetetrahydrofolate reductase deficiency, MTHFR, ranibizumab, vascular endothelial growth factor, Medicine

وصف الملف: electronic resource

العلاقة: http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2014;volume=19;issue=1;spage=75;epage=79;aulast=AydogduTest; https://doaj.org/toc/1735-1995Test; https://doaj.org/toc/1735-7136Test

الوصول الحر: https://doaj.org/article/7a9c2cc5609d4b42ad33f715a943e909Test

المؤلفون: Christian Lavigne, Christoph Kessler, Matthias R. Baumgartner, Patricie Burda, François Feillet, Martina Huemer, Viktor Kožich, Mirian C. H. Janssen, Fanny Mochel, Rebecca Schüle, Pavel Ješina, Karolina M. Stepien, Adeline Regnier, Isabelle Redonnet-Vernhet, Jean-François Benoist, Cecilia Marelli

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786

مصطلحات موضوعية: Male, Delayed Diagnosis, Methylenetetrahydrofolate reductase deficiency, diagnosis [Muscle Spasticity], Gastroenterology, pathology [Epilepsy], Epilepsy, 0302 clinical medicine, late-onset, Medicine, Age of Onset, Cognitive decline, Child, Genetics (clinical), 0303 health sciences, biology, MTHFR deficiency, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, 3. Good health, Neurology, Muscle Spasticity, diagnosis [Psychotic Disorders], Homocystinuria, Female, medicine.symptom, pathology [Homocystinuria], Polyneuropathy, pathology [Muscle Spasticity], Adult, diagnosis [Seizures], medicine.medical_specialty, Adolescent, Late onset, Late-onset, Asymptomatic, pathology [Intellectual Disability], Young Adult, 03 medical and health sciences, Seizures, Intellectual Disability, Internal medicine, Genetics, Humans, pathology [Psychotic Disorders], deficiency [Methylenetetrahydrofolate Reductase (NADPH2)], Inherited metabolic disease, inherited metabolic disease, Methylenetetrahydrofolate Reductase (NADPH2), Retrospective Studies, 030304 developmental biology, pathology [Seizures], business.industry, neurology, diagnosis [Homocystinuria], medicine.disease, diagnosis [Epilepsy], Psychotic Disorders, diagnosis [Intellectual Disability], Methylenetetrahydrofolate reductase, biology.protein, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d46842247db613f3948216a26335491Test
https://doi.org/10.1002/jimd.12323Test

المؤلفون: Xi Liu, Xiaojun Wang, Zhe Wang, Limin Zhang, Tao Peng, Wenping Liang, Yu Li, Menghan Wang, Hong Lu

المصدر: Aging (Albany NY)

مصطلحات موضوعية: Baclofen, Proteasome Endopeptidase Complex, Aging, Adolescent, Methylenetetrahydrofolate reductase deficiency, molecular mechanisms, Mutation, Missense, Neural Conduction, Single-nucleotide polymorphism, pathogenic mutation, medicine.disease_cause, Polymorphism, Single Nucleotide, Exon, Folic Acid, Methionine, single nucleotide polymophorism, Mutant protein, Muscle Hypertonia, medicine, Humans, SNP, Cognitive Dysfunction, Allele, Alleles, Methylenetetrahydrofolate Reductase (NADPH2), Genetics, Mutation, Reflex, Abnormal, biology, Muscle Relaxants, Central, MTHFR deficiency, Brain, Cell Biology, medicine.disease, proteasome degradation, Magnetic Resonance Imaging, Spine, digestive system diseases, Vitamin B 12, Psychotic Disorders, Muscle Spasticity, Methylenetetrahydrofolate reductase, Proteolysis, Vitamin B Complex, biology.protein, Ataxia, Female, Homocystinuria, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ef7aa3a2cbb7f060c83cf3305ffb9b8Test
https://doi.org/10.18632/aging.202256Test

المؤلفون: Hongrui Shen, Kai-Jie Chang, Zhe Zhao, Qi Bing, Nan Li, Jing Hu, Xuan Guo

المصدر: Neurological Sciences. 42:1987-1993

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurology, Adolescent, Homocysteine, Methylenetetrahydrofolate reductase deficiency, Anemia, Dermatology, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Cognitive Dysfunction, 030212 general & internal medicine, Cognitive decline, Psychiatry, Gait Disorders, Neurologic, Methylenetetrahydrofolate Reductase (NADPH2), biology, business.industry, Vitamin B 12 Deficiency, General Medicine, medicine.disease, MMACHC, Vitamin B 12, Psychiatry and Mental health, chemistry, Methylenetetrahydrofolate reductase, biology.protein, Homocystinuria, Neurology (clinical), CBLC, Oxidoreductases, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb18597c9c2ea6ae1228498d97d086fTest
https://doi.org/10.1007/s10072-020-04756-0Test

المؤلفون: Sheela Nampoothiri, Harikrishnan Ramachandran, Ramshekhar N. Menon, Santhakumar Senthilvelan, Chandrasekharan Kesavadas, Sathish Kandasamy, Bejoy Thomas

المصدر: Clinical Neuroradiology. 31:277-281

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, Methylenetetrahydrofolate reductase deficiency, business.industry, medicine.disease, Leukoencephalopathy, Myelopathy, medicine, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Neurosurgery, business, Neuroradiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7878f87cf08ec5b6fa76a1d18b29ceaaTest
https://doi.org/10.1007/s00062-020-00947-6Test

المؤلفون: Mayank Nilay, Deepti Saxena, Suzena Masih, Shubha R. Phadke, Arya Shambhavi, Amita Moirangthem

المصدر: Clinical dysmorphology. 31(2)

مصطلحات موضوعية: Infantile encephalopathy, medicine.medical_specialty, Methylenetetrahydrofolate reductase deficiency, Homocystinuria, Gastroenterology, Pathology and Forensic Medicine, Leukoencephalopathy, Internal medicine, Medicine, Humans, Genetics (clinical), Methylenetetrahydrofolate Reductase (NADPH2), biology, business.industry, Spastic paraparesis, General Medicine, medicine.disease, Phenotype, Betaine, Folic acid, Muscle Spasticity, Methylenetetrahydrofolate reductase, Pediatrics, Perinatology and Child Health, biology.protein, Anatomy, Nervous System Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935db431112d9d120b7e23cd7a855b34Test
https://pubmed.ncbi.nlm.nih.gov/34845156Test