Precision medicine in Thailand
V Shotelersuk, S Tongsima… - American Journal of …, 2019 - Wiley Online Library
Extraordinary advances in high throughput next generation sequencing (NGS) technology
and bioinformatics are the main thrust that transforms the current state of healthcare into the …
and bioinformatics are the main thrust that transforms the current state of healthcare into the …
Neuronal death, glial reactivity, microglia activation, oxidative stress and bioenergetics impairment caused by intracerebroventricular administration of D-2 …
RT Ribeiro, B Seminotti, Â Zanatta, FH de Oliveira… - Neuroscience, 2021 - Elsevier
Abstract D-2-hydroxyglutaric acid (D-2-HG) accumulates and is the biochemical hallmark of
D-2-hydroxyglutaric acidurias (D-2-HGA) types I and II, which comprehend two inherited …
D-2-hydroxyglutaric acidurias (D-2-HGA) types I and II, which comprehend two inherited …
An intermediate phenotype in IDH related enchondromatosis spectrum
E Yilmaz-Gulec, P Marzin, C Huber-Lequesne… - European Journal of …, 2023 - Elsevier
Mosaic variants of IDH1 (isocitrate dehydrogenase-1) R132 and IDH2 (isocitrate
dehydrogenase-2) R172 loci were detected in most of the bone cysts of Ollier and Maffucci …
dehydrogenase-2) R172 loci were detected in most of the bone cysts of Ollier and Maffucci …
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
A Srinivasan, Y Zhou, T Scordino… - Pediatric hematology …, 2020 - Taylor & Francis
Abstract D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare metabolic disorder characterized
by developmental delay, hypotonia, and bi-allelic mutations in D-2-hydroxyglutarate …
by developmental delay, hypotonia, and bi-allelic mutations in D-2-hydroxyglutarate …
[HTML][HTML] D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum
A Preston, K Reardon, N Crowson, W Lamar… - Cureus, 2019 - ncbi.nlm.nih.gov
In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and
enchondromatosis with a prior history of hyperpigmented, segmental whorls and streaks on …
enchondromatosis with a prior history of hyperpigmented, segmental whorls and streaks on …
Most common benign tumours in the hand: epidemiology, clinical features, basics of differential diagnostics, treatment options. literature review
G Mundorff - 2023 - epublications.vu.lt
Abstract [eng] Tumors can occur in every tissue of the human body. Even though rare,
tumors of the hand have a great impact on our daily lives. The lesions can be classified into …
tumors of the hand have a great impact on our daily lives. The lesions can be classified into …
Preputial Haemangioma and Vascular Malformations
MAB Fahmy, MAB Fahmy - Normal and Abnormal Prepuce, 2020 - Springer
Vascular anomalies involving the male genitalia are a constant major cosmetic concern, with
a considerable distress, it adversely impact a patient's self-image, inflict pain, and may alter …
a considerable distress, it adversely impact a patient's self-image, inflict pain, and may alter …
[引用][C] Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest
K Rattanapornsompong… - American Journal of …, 2024 - Wiley Online Library