Zobrazeno 1 - 10
of 11 536
pro vyhledávání: '"homocysteinemia"'
Autor:
Murali M., Annu1, Vasudeva, Bhanumathi1, Imam, Syeda Maisarah1, Govindaraju, Sharadha1, Savitha C.2
Publikováno v:
European Journal of Cardiovascular Medicine. 2024, Vol. 14 Issue 3, p1127-1133. 7p.
Akademický článek
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Autor:
Raghavendra Prasad, K. U.1 (AUTHOR) prasadusha45@gmail.com, Divya, C. T.1 (AUTHOR), Ramitha, T. S.1 (AUTHOR)
Publikováno v:
Indian Journal of Otolaryngology & Head & Neck Surgery. 2022 Suppl, Vol. 74, p4784-4787. 4p.
Autor:
Arhip, Loredana1,2 (AUTHOR) loredanarhip@gmail.com, Brox-Torrecilla, Noemi3 (AUTHOR), Romero, Inmaculada4 (AUTHOR), Motilla, Marta1,2 (AUTHOR), Serrano-Moreno, Clara1,2 (AUTHOR), Miguélez, María5 (AUTHOR), Cuerda, Cristina1,2,6 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 1/20/2024, Vol. 19 Issue 1, p1-9. 9p.
Autor:
Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez, Cristina Cuerda
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Introduction Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an e
Externí odkaz:
https://doaj.org/article/5335f7e7e45740dfb0a445591c3b3285
Akademický článek
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Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
Autor:
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocyste
Externí odkaz:
https://doaj.org/article/bb6214fc32dc4f42ae156ece02af4309
Publikováno v:
Progress in Modern Biomedicine. Feb2019, Vol. 19 Issue 4, p798-733. 4p.
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Methylmalonic acidemia (MMA) can display many clinical manifestations, among which acute lymphoblastic leukemia (ALL) has not been reported, and congenital heart disease (CHD) is also rare.Case presentation: We report an MMA case with ALL
Externí odkaz:
https://doaj.org/article/8f6f7a3209ff4045a1f16b91b9a9ec95