Genetic testing confirmed the early diagnosis of X-linked hypophosphatemic rickets in a 7-month-old infant
10.1177/2324709615598167
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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 |
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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 |
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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 |
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10.1177/2324709615598167 |
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PAEDIATRICS |
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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 |
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2020 |
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https://scholarbank.nus.edu.sg/handle/10635/183455 |
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1800914699760435200 |