. Author manuscript; available in PMC: 2018 Feb 1.

Published in final edited form as: Hum Genet. 2016 Nov 30;136(2):253–261. doi: 10.1007/s00439-016-1751-x

Table 1.

Biochemical parameters and trends

Test \ Age	22 mo	25 mo	27 mo	29 mo	Normal Range
Calcium, serum	8.2	9.1			9.1-10.3 mg/dL
Ionized calcium, venous			1.26	1.2	1.12-1.23 mmol/L
Phosphorus, serum	2.6	2.5	2.3	5.6	4.1-6.5 mg/dL
Alkaline phosphatase	1208	765			142-336 Units/L
Manganese				7.4	7-16 mcg/L
Zinc				114	29-115 mcg/dL
PTH, intact	71.6				13-85 pg/mL
25-OHD	21				20-100 ng/mL
1,25-(OH)2D	285	257	244		31-87 pg/mL
Uca/Ucr	0.13				<0.2
Uphos	<1				TRP>85%

PTH = parathyroid hormone, intact; Uca/Ucr = urine calcium-to-creatinine ratio; Uphos = urinary phosphorus; TRP = tubular reabsorption of phosphorus