Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant

10.1177/2324709615598167

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Main Authors: Poon, K.S, Sng, A.A, Ho, C.W, Koay, E.S.-C, Loke, K.Y
Other Authors: PAEDIATRICS
Format: Article
Published: 2020
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Online Access:https://scholarbank.nus.edu.sg/handle/10635/183455
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spelling sg-nus-scholar.10635-1834552024-04-24T05:32:05Z Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant Poon, K.S Sng, A.A Ho, C.W Koay, E.S.-C Loke, K.Y PAEDIATRICS PATHOLOGY alkaline phosphatase calcium creatinine phosphate phosphate regulating neutral endopeptidase vitamin D Article biochemical analysis bioinformatics case report DNA extraction early diagnosis family history follow up gene amplification gene mutation genetic screening glomerulus filtration rate human infant male priority journal reverse transcription polymerase chain reaction sequence analysis X linked hypophosphatemic rickets 10.1177/2324709615598167 Journal of Investigative Medicine High Impact Case Reports 3 3 2020-11-17T02:52:53Z 2020-11-17T02:52:53Z 2015 Article Poon, K.S, Sng, A.A, Ho, C.W, Koay, E.S.-C, Loke, K.Y (2015). Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant. Journal of Investigative Medicine High Impact Case Reports 3 (3). ScholarBank@NUS Repository. https://doi.org/10.1177/2324709615598167 23247096 https://scholarbank.nus.edu.sg/handle/10635/183455 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031
institution National University of Singapore
building NUS Library
continent Asia
country Singapore
Singapore
content_provider NUS Library
collection ScholarBank@NUS
topic alkaline phosphatase
calcium
creatinine
phosphate
phosphate regulating neutral endopeptidase
vitamin D
Article
biochemical analysis
bioinformatics
case report
DNA extraction
early diagnosis
family history
follow up
gene amplification
gene mutation
genetic screening
glomerulus filtration rate
human
infant
male
priority journal
reverse transcription polymerase chain reaction
sequence analysis
X linked hypophosphatemic rickets
spellingShingle alkaline phosphatase
calcium
creatinine
phosphate
phosphate regulating neutral endopeptidase
vitamin D
Article
biochemical analysis
bioinformatics
case report
DNA extraction
early diagnosis
family history
follow up
gene amplification
gene mutation
genetic screening
glomerulus filtration rate
human
infant
male
priority journal
reverse transcription polymerase chain reaction
sequence analysis
X linked hypophosphatemic rickets
Poon, K.S
Sng, A.A
Ho, C.W
Koay, E.S.-C
Loke, K.Y
Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant
description 10.1177/2324709615598167
author2 PAEDIATRICS
author_facet PAEDIATRICS
Poon, K.S
Sng, A.A
Ho, C.W
Koay, E.S.-C
Loke, K.Y
format Article
author Poon, K.S
Sng, A.A
Ho, C.W
Koay, E.S.-C
Loke, K.Y
author_sort Poon, K.S
title Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant
title_short Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant
title_full Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant
title_fullStr Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant
title_full_unstemmed Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant
title_sort genetic testing confirmed the early diagnosis of x-linked hypophosphatemic rickets in a 7-month-old infant
publishDate 2020
url https://scholarbank.nus.edu.sg/handle/10635/183455
_version_ 1800914699760435200