[PDF][PDF] Hypermanganesaemia with dystonia polycythemia and cirrhosis
Hypermanganesaemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare 13
genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 14 …
genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 14 …
Penicillamine for hypermanganesemia with dystonia, polycythemia, and cirrhosis in 2 sisters
A Dutta, R Majumdar, S Dubey, A Pandit - Neurology, 2021 - AAN Enterprises
Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a treatable
disease caused by mutations in the SLC30A10 gene. 1, 2 Because of its rarity, treatment …
disease caused by mutations in the SLC30A10 gene. 1, 2 Because of its rarity, treatment …
[HTML][HTML] Hypermanganesemia with Dystonia 1
K Tuschl, PT Clayton, SM Gospe Jr, PB Mills - 2021 - europepmc.org
Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A
movement disorder resulting from manganese accumulation in the basal ganglia. Whole …
movement disorder resulting from manganese accumulation in the basal ganglia. Whole …
[HTML][HTML] Hypermanganesemia with Dystonia 1 Synonyms: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; HMNDYT1
K Tuschl, PT Clayton, SM Gospe Jr, PB Mills - europepmc.org
Neurologic findings can manifest in childhood (ages 2-15 years) as four-limb dystonia,
leading to a characteristic high-stepping gait (" cock-walk gait"), dysarthria, fine tremor, and …
leading to a characteristic high-stepping gait (" cock-walk gait"), dysarthria, fine tremor, and …
[PDF][PDF] Coffee with Genome: Emerging Paradigms in Personalised Medicine
S Aggarwal - iamg.in
French et al. performed trio Whole Genome Sequencing in a cohort of 195 intensively ill
children in the neonatal and pediatric intensive care units. A genetic diagnosis was …
children in the neonatal and pediatric intensive care units. A genetic diagnosis was …
[PDF][PDF] Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene
L Huang, Z Yang, CP Kirschke, C Prouteau… - Cancer …, 2011 - scholar.archive.org
Zinc is an essential trace mineral. Dietary zinc deficiency results in stunted growth, skin
lesions, hypogonadism, and frequent infections in humans. Mice genetically lacking Slc30a7 …
lesions, hypogonadism, and frequent infections in humans. Mice genetically lacking Slc30a7 …