过去一年中添加的文章，按日期排序
The Treatable Metallic Twists—Siblings with Inherited Hypermanganesemia due to SLC30A10 Mutation (P10-3.013)
L Priya - Neurology, 2024 - AAN Enterprises
105 天前 - … causes only neurotoxicity, while inherited variant causes … His routine investigations
showed polycythemia and normal … Hypermanganesemia with dystonia type 1 syndrome must …
showed polycythemia and normal … Hypermanganesemia with dystonia type 1 syndrome must …
[HTML][HTML] Case Report: Childhood Erythrocytosis due to Hypermanganesemia Caused by Homozygous SLC30A10 Mutation
T Coppola, H Hughes, P Finch, J Hess, SW Wu… - Frontiers in …, 2024 - frontiersin.org
170 天前 - … case of erythrocytosis due to a homozygous SLC30A10 mutation, causative of
Hypermanganesemia with Dystonia… Our case report highlights a rare cause of erythrocytosis due …
Hypermanganesemia with Dystonia… Our case report highlights a rare cause of erythrocytosis due …
[HTML][HTML] Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants—differential diagnosis and recommendation for biochemical and …
R Giannini, E Agolini, G Palumbo, A Novelli… - Frontiers in …, 2024 - frontiersin.org
204 天前 - … of a 3-year-old boy with a rare metabolic disorder due to SLC30A10 bi-allelic
mutations … form of erythrocytosis known as hypermanganesemia with dystonia 1 (HMNDYT1). …
mutations … form of erythrocytosis known as hypermanganesemia with dystonia 1 (HMNDYT1). …
A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants: differential diagnosis and recommendation for biochemical and genetic screening.
R Giannini, E AGOLINI, G Palumbo, A Novelli… - Authorea …, 2023 - techrxiv.org
329 天前 - … form of erythrocytosis known as hypermanganesemia with dystonia 1 (HMNDYT1). …
and chronic liver disease, associated with biallelic pathogenic mutations in SLC30A10 gene…
and chronic liver disease, associated with biallelic pathogenic mutations in SLC30A10 gene…