Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Methylmalonic acidemia and homocystinuria"'
Publikováno v:
Heliyon, Vol 10, Iss 13, Pp e33457- (2024)
Background: Dual occurrence of distinct genetic diseases is exceptionally rare, complicating both diagnosis and management when the conditions share overlapping symptoms. Case presentation: We describe a preschooler girl diagnosed with Down syndrome
Externí odkaz:
https://doaj.org/article/d2ac63f9ef984c0182046c64cd87839e
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
Autor:
Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evalua
Externí odkaz:
https://doaj.org/article/75b7f9c5de2e49f1b905e55958015cca
Akademický článek
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Autor:
Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 17-24 (2020)
Abstract Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a varia
Externí odkaz:
https://doaj.org/article/bbf156daba584caeab17e8c1a34fdca9
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (
Externí odkaz:
https://doaj.org/article/b07b422cf45743238f53c5b6c376b936
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Vasiliki Karava, Antonia Kondou, John Dotis, Georgia Sotiriou, Spyridon Gerou, Helen Michelakakis, Euthymia Vargiami, Marina Economou, Dimitrios Zafeiriou, Nikoleta Printza
Publikováno v:
Children, Vol 8, Iss 2, p 112 (2021)
Methylmalonic acidemia and homocystinuria cobalamin C (cblC) type is the most common inborn error of the intracellular cobalamin metabolism, associated with multisystem involvement and high mortality rates, especially in the early-onset form of the d
Externí odkaz:
https://doaj.org/article/9143bdbdfe004d12a7863baf602d7f84
Autor:
Meral Gunay-Aygun, Mohammed A. Almuqbil, Julia M. Carlson, Jessica T Ogawa, Tao Wang, Irini Manoli, Alexander Y. Kim, Charles P. Venditti, Jennifer L. Sloan, Tomoyasu Higashimoto
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 17-24 (2020)
JIMD Reports
JIMD Reports
Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a491f798e9f9282ecc3ff712a74732
https://doaj.org/article/bbf156daba584caeab17e8c1a34fdca9
https://doaj.org/article/bbf156daba584caeab17e8c1a34fdca9