Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

© 2017 The Author(s). Background: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary r...

Saved in:

書目詳細資料
Main Authors:	Chaiyasap P., Ittiwut C., Srichomthong C., Sangsin A., Suphapeetiporn K., Shotelersuk V.
格式:	雜誌
出版:	2017
在線閱讀:	https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85029433997&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/40107
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

相似書籍

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
由: Pongsathorn Chaiyasap, et al.
出版: (2018)

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
由: Pongsathorn Chaiyasap, et al.
出版: (2018)

Resolving the Diagnostic Odyssey of a Patient with an Undefined Neuromuscular Disorder Using Massively Parallel Sequencing Approaches
由: Yu, Yiliu, et al.
出版: (2020)

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita
由: A. Sangsin, et al.
出版: (2018)

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita
由: Sangsin A., et al.
出版: (2017)

Clinical therapeutics for phenylketonuria
由: Kochhar, J.S., et al.
出版: (2014)

Phenylketonuria in Chinese in Singapore
由: Boon, W.H.
出版: (2016)

Short stature, platyspondyly, hip dysplasia, and retinal detachment: An atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: A case report
由: Sangsin A., et al.
出版: (2017)

Development of massively parallel nanolithography
由: Lee, Sharon Mei Yi.
出版: (2013)

Empirical study of parallelism throttling schemes on a massively parallel system
由: Teo, Y.M., et al.
出版: (2014)

Short stature, platyspondyly, hip dysplasia, and retinal detachment: An atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: A case report
由: Apiruk Sangsin, et al.
出版: (2018)

Query optimization for massively parallel data processing
由: Wu, S., et al.
出版: (2013)

MASSIVELY PARALLEL NEURAL SIGNAL PROCESSING
由: TAM WING KIN
出版: (2017)

Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria
由: Sarkissian, C.N., et al.
出版: (2014)

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
由: Sangsin A., et al.
出版: (2017)

Converting an injectable protein therapeutic into an oral form: Phenylalanine ammonia lyase for phenylketonuria
由: Kang, T.S., et al.
出版: (2014)

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel
由: Brett, M., et al.
出版: (2014)

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: A case report
由: Chulaluck Kuptanon, et al.
出版: (2018)

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
由: Apiruk Sangsin, et al.
出版: (2018)

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report
由: Apiruk Sangsin, et al.
出版: (2018)

High performance stereo vision designed for massively data parallel platforms
由: Yu W., et al.
出版: (2018)

A preliminary evaluation of a massively parallel processor: GAPP
由: Wong, W.F., et al.
出版: (2014)

Iron deficiency--a diagnostic problem.
由: Lam, S.K., et al.
出版: (2013)

Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis
由: Poon, Kok-Siong, et al.
出版: (2021)

Massively parallel ultrafast random bit generation with a chip-scale laser
由: Kim, Kyungduk, et al.
出版: (2021)

Massively parallel implementation of a pattern based evaluation function for computer chess
由: U. G. Namal Prasanna Kumara
出版: (2008)

Impaired systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in pediatric falciparum malaria : association with disease severity
由: Granger, Donald L., et al.
出版: (2015)

Massively parallel entropy based pattern recognition for system identification in catalytic binuclear elimination reaction
由: Li, C., et al.
出版: (2014)

Massively parallel entropy based pattern recognition for system identification in catalytic binuclear elimination reaction
由: Li, C., et al.
出版: (2014)

Neonatal screening for congenital hypothyroidism and phenylketonuria at Siriraj Hospital, Mahidol University, Bangkok, Thailand - A pilot study
由: Pornswan Wasant, et al.
出版: (2018)

Design and implementation of a reconfigurable machine for massively parallel neural computation (RM-nc)
由: Erdogan, Sevki Serkan, et al.
出版: (2008)

“Multipoint force feedback” leveling of massively parallel tip arrays in scanning probe lithography
由: Noh, Hanaul, et al.
出版: (2015)

Massively parallel single-molecule telomere length measurement with digital real-time PCR
由: Luo, Y., et al.
出版: (2021)

Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
由: Chupong Ittiwut, et al.
出版: (2020)

GENOME AND EXOME SEQUENCES OF MONOZYGOTIC TWINS WITH TRISOMY 21, DISCORDANT FOR A CONGENITAL HEART DEFECT
由: Pongsathorn Chaiyasap
出版: (2014)

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
由: Wuttichart Kamolvisit, et al.
出版: (2022)

Game tree search on a massively parallel SIMD machine : an algorithmic study with computer chess
由: He, Shaojun.
出版: (2008)

Reactive oxygen species production and MAPK activation are implicated in tetrahydrobiopterin-induced SH-SY5Y cell death
由: Vasutakarn Chongthammakun, et al.
出版: (2018)

Reversal effect of vitamin c on diabetes induced endothelial dysfunction in rats : roles of reactive oxygen species, tetrahydrobiopterin, and nitric oxide
由: Pattarin Sridulyakul
出版: (2014)

Reversal effect of vitamin c on diabetes induced endothelial dysfunction in rats : roles of reactive oxygen species, tetrahydrobiopterin, and nitric oxide
由: Pattarin Sridulyakul
出版: (2014)