المؤلفون: Rui Dong, Chen Liu, Yulin Liu, Haiyan Zhang, Guohua Liu, Yi Liu, Zhongtao Gai

المصدر: Heliyon, Vol 10, Iss 13, Pp e33457- (2024)

مصطلحات موضوعية: Down syndrome, Combined methylmalonic acidemia and homocystinuria, Motor disorders, Mental retardancy, Whole exome sequencing, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S240584402409488XTest; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/d2ac63f9ef984c0182046c64cd87839eTest

المؤلفون: Tomas Majtan, Thomas Olsen, Jitka Sokolova, Jakub Krijt, Michaela Křížková, Tomoaki Ida, Tamás Ditrói, Hana Hansikova, Ondrej Vit, Jiri Petrak, Ladislav Kuchař, Warren D. Kruger, Péter Nagy, Takaaki Akaike, Viktor Kožich

المصدر: Redox Biology, Vol 73, Iss , Pp 103222- (2024)

مصطلحات موضوعية: Cystathionine beta-synthase, Homocystinuria, Methionine restriction, Metabolomics, Proteomics, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2213231724002003Test; https://doaj.org/toc/2213-2317Test

الوصول الحر: https://doaj.org/article/b8708cd31b8443ea933830c25a0f91dbTest

المؤلفون: Yuezhu Lu, Yang Jiang, Zaowen Wang

المصدر: American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102042- (2024)

مصطلحات موضوعية: Cystathionine beta-synthase (CBS), Homocystinuria, Ectopia lentis, Lens subluxation, Total capsular bag suspension technique, Case report, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2451993624000525Test; https://doaj.org/toc/2451-9936Test

الوصول الحر: https://doaj.org/article/59824b7c35964e5290a43e934996f5c8Test

المؤلفون: Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez, Cristina Cuerda

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Methylmalonic acidemia and homocystinuria, cblC type, Late-onset, MMACHC protein, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/5335f7e7e45740dfb0a445591c3b3285Test

المؤلفون: Mahim Jain, Mehul Shah, Kamlesh M. Thakker, Andrew Rava, Agness Pelts Block, Colette Ndiba-Markey, Lionel Pinto

المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101101- (2024)

مصطلحات موضوعية: Classical homocystinuria, Prevalence, Total homocysteine, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000545Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/2834256d279440a8a1a1c33f7b1f3763Test

العنوان البديل: Homocystinuria: differential diagnosis of syndromic tall stature. About a case. (English)

المؤلفون: GALLEGO-BETANCOURT, BIBIANA M., GÓMEZ-DE LA ROSA, RICHARD J., MEJÍA-DE BELDJENNA, LILIANA

المصدر: Revista Mexicana de Endocrinología, Metabolismo y Nutrición; ene-mar2024, Vol. 11 Issue 1, p34-40, 7p

مصطلحات موضوعية: HOMOCYSTEINE, DIFFERENTIAL diagnosis, RARE diseases, HOMOCYSTINURIA, METHIONINE, GENETIC variation, GROWTH disorders, GENETIC techniques, GENOTYPES

المؤلفون: Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto e Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz

المصدر: Genetics and Molecular Biology, Vol 47, Iss 1 (2024)

مصطلحات موضوعية: Classic Homocystinuria, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome, deafness, exome analysis, multilocus pathogenic variation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100105&lng=en&tlng=enTest; http://www.scielo.br/pdf/gmb/v47n1/1415-4757-GMB-47-01-e20220335.pdfTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/c8126f3045e9484785b14d1f1aa59e81Test

المؤلفون: Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: cblC defect, Late-onset, Methylmalonic acidemia and homocystinuria, Neuropsychiatric symptoms, Prognosis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/75b7f9c5de2e49f1b905e55958015ccaTest

المؤلفون: Nguyen, Minh G, Tronick, Lauren, Modirian, Faraz, Mardach, Rebecca, Besterman, Aaron D

المصدر: Cold Spring Harbor molecular case studies. 8(2)

مصطلحات موضوعية: Humans, Homocystinuria, Amino Acid Metabolism, Inborn Errors, Vitamin B 12 Deficiency, Methylmalonic Acid, Vitamin B 12, Carrier Proteins, Mutation, Male, Autism Spectrum Disorder, Vitamin B12 deficiency, decreased adenosylcobalamin, decreased methylcobalamin, malabsorption of Vitamin B12, methylmalonic acidemia, Intellectual and Developmental Disabilities (IDD), Neurosciences, Behavioral and Social Science, Brain Disorders, Autism, Mental Health, Mental health, Neurological, Good Health and Well Being

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3mj5423dTest

المؤلفون: Yadav, Kusumlata, Mishra, Arpita, Narayan, Raghvendra, Singh, Ashok, Agrawal, Ritesh, Mishra, Om Prakash

المصدر: Journal of Pediatric Neurology; Oct2023, Vol. 21 Issue 5, p395-398, 4p

مصطلحات موضوعية: TRAUMATOLOGY diagnosis, STROKE treatment, TRAUMA surgery, CRYSTALLINE lens surgery, WARFARIN, ENOXAPARIN, HOMOCYSTEINE, DIET in disease, BETAINE, PROTHROMBIN time, FLUID therapy, VITAMIN B6, VITAMIN B12, CEREBRAL infarction, ORAL drug administration, VITAMIN C, MAGNETIC resonance imaging, METHIONINE, VENOUS thrombosis, VOMITING, DIET therapy, LOW-molecular-weight heparin, HEADACHE, FOLIC acid, INTERNATIONAL normalized ratio, VISION disorders, CLOBAZAM, HOMOCYSTINURIA, CRYSTALLINE lens, EATING disorders, CHILD development deviations, HEMIPLEGIA, OPHTHALMIC surgery, RISPERIDONE, EARLY diagnosis, EARLY medical intervention