Search Results - "Kulsirichawaroj, Pimchanok"

Survival analysis and life expectancy of pediatric patients with spinal muscular atrophy in Thailand by Sittiyuno, Piyanart, Kulsirichawaroj, Pimchanok, Leelahavarong, Pattara, Sanmaneechai, Oranee

“…Survival data for Thai patients with 5q spinal muscular atrophy (SMA), the leading cause of infant mortality worldwide, are lacking. This study aimed to…”
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Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum by Summa, Sarinya, Ittiwut, Chupong, Kulsirichawaroj, Pimchanok, Paprad, Tanitnun, Likasitwattanakul, Surachai, Sanmaneechai, Oranee, Boonsimma, Ponghatai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

“…Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their…”
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Polyneuritis Cranialis Associated with BNT162b2 mRNA COVID-19 Vaccine in a Healthy Adolescent by Kulsirichawaroj, Pimchanok, Sanmaneechai, Oranee, Wittawatmongkol, Orasri, Chokephaibulkit, Kulkanya

“…A 16-year-old Thai girl developed right facial palsy, a lower motor neuron lesion, and numbness 3 h after receiving the first dose of the BNT162b2 mRNA…”
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Incidence and associated factors of congenital syphilis at a tertiary care center in Thailand by Kulsirichawaroj, Pimchanok, Lumbiganon, Dissajee

“…The incidence of congenital syphilis is increasing worldwide, in parallel with the increase of syphilis in the general population. This study aimed to…”
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Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand by Kulsirichawaroj, Pimchanok, Likasitwattanakul, Surachai, Boonsimma, Ponghatai, Prangphan, Kanjana, Chanvanichtrakool, Mongkol

“…Neuronal ceroid lipofuscinoses (NCLs) (hereafter described as CLN disease) comprise a rare and life-limiting set of genetically inherited neurodegenerative…”
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Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy by Yeetong, Patra, Kulsirichawaroj, Pimchanok, Kumutpongpanich, Theerawat, Srichomthong, Chalurmpon, Od-ek, Phichittra, Rakwongkhachon, Supphakorn, Thamcharoenvipas, Titaporn, Sanmaneechai, Oranee, Pongpanich, Monnat, Shotelersuk, Vorasuk

“…•Whole genome sequencing using Oxford Nanopore PromethION (ONT) offers a simple and effective molecular diagnosis for FSHD by identifying a contraction of the…”
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Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand by Kulsirichawaroj, Pimchanok, Suksangkharn, Yanin, Nam, Da Eun, Pho-Iam, Theeraphong, Limwongse, Chanin, Chung, Ki Wha, Sanmaneechai, Oranee, Zuchner, Stephan L, Choi, Byung-Ok

“…Inherited peripheral neuropathy presents a diagnostic and therapeutic challenge due to its association with mutations in over 100 genes. This condition leads…”
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Polyneuritis Cranialis Associated with BNT162b2 mRNA COVID-19 Vaccine in a Healthy Adolescent by Kulsirichawaroj, Pimchanok, Sanmaneechai, Oranee, Wittawatmongkol, Orasri, Chokephaibulkit, Kulkanya

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