1 n a subset of rats studied, the Nx group was hypocalciuric (1.4+/-0.5 mg/kg per d) compared with the

2 tigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), neonatal severe prim

3 e AP2sigma2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder o

4 se of hypercalcemia in the child is familial hypocalciuric hypercalcemia (also termed familial benign

5 symptomatic state resembling familial benign hypocalciuric hypercalcemia (FBHH).

6 s with the hypercalcemic disorders, familial hypocalciuric hypercalcemia (FHH) and neonatal severe hy

7 inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperpar

8 of the nine unrelated patients with familial hypocalciuric hypercalcemia had a missense GNA11 mutatio

9                                     Familial hypocalciuric hypercalcemia is a genetically heterogeneo

10 lcium (Ca(2+) i) signaling, lead to familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal

11 tational analysis in a kindred with familial hypocalciuric hypercalcemia type 2 and in nine unrelated

12                    The kindred with familial hypocalciuric hypercalcemia type 2 had an in-frame delet

13 mutants with loss of function cause familial hypocalciuric hypercalcemia type 2, and Galpha11 mutants

14  of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations

15 fs of CCV cargo proteins, result in familial hypocalciuric hypercalcemia type 3 (FHH3), an extracellu

16 and in nine unrelated patients with familial hypocalciuric hypercalcemia who did not have mutations i

17 al characteristics of patients with familial hypocalciuric hypercalcemia, an autosomal-dominant disea

18 idus, familial ACTH resistance, and familial hypocalciuric hypercalcemia, respectively.

19 us loss-of-function mutations cause familial hypocalciuric hypercalcemia.

20 (2) the classic Bartter variant; and (3) the hypocalciuric-hypomagnesemic Gitelman variant.

21                                   The intact hypocalciuric response to a thiazide diuretic indicates