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

• المؤلفون الرئيسيون: Poon, K.S, Sng, A.A, Ho, C.W, Koay, E.S.-C, Loke, K.Y
• مؤلفون آخرون: PAEDIATRICS
• التنسيق: مقال
• منشور في: 2020
• الموضوعات: 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
• الوصول للمادة أونلاين: https://scholarbank.nus.edu.sg/handle/10635/183455

10.1177/2324709615598167