Detalhe da pesquisa
1.
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
Nat Genet
; 24(1): 45-8, 2000 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-10615125
2.
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
J Clin Invest
; 76(2): 752-6, 1985 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-4031070
3.
Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.
J Clin Invest
; 81(4): 1234-9, 1988 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-3350970
4.
Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
J Clin Invest
; 86(1): 40-5, 1990 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-1973175
5.
Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy.
J Clin Invest
; 95(4): 1440-5, 1995 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-7706447
6.
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
J Clin Invest
; 96(6): 2683-92, 1995 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-8675635
7.
Insulin-like growth factor system abnormalities in hepatitis C-associated osteosclerosis. Potential insights into increasing bone mass in adults.
J Clin Invest
; 101(10): 2165-73, 1998 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-9593772
8.
Cementum and dentin in hypophosphatasia.
J Dent Res
; 84(11): 1021-5, 2005 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16246934
9.
Heterogeneity of adult hypophosphatasia. Report of severe and mild cases.
Arch Intern Med
; 141(6): 727-31, 1981 May.
Artigo
Inglês
| MEDLINE | ID: mdl-7235780
10.
Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia.
Arch Intern Med
; 139(10): 1187-9, 1979 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-485758
11.
Measles virus nucleocapsid transcript expression is not restricted to the osteoclast lineage in patients with Paget's disease of bone.
Exp Hematol
; 27(10): 1528-32, 1999 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-10517494
12.
Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.
J Dent Res
; 94(5): 706-14, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25716980
13.
"Café-au-lait spots" caused by vitiligo in McCune-Albright syndrome.
J Bone Miner Res
; 15(12): 2521-3, 2000 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-11127218
14.
Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency).
J Bone Miner Res
; 3(4): 385-8, 1988 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-3146897
15.
Doubling skeletal mass during adult life: the syndrome of diffuse osteosclerosis after intravenous drug abuse.
J Bone Miner Res
; 11(4): 554-8, 1996 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-8992887
16.
Hypophosphatasia: molecular diagnosis of Rathbun's original case.
J Bone Miner Res
; 16(9): 1724-7, 2001 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-11547844
17.
Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature.
J Bone Miner Res
; 4(6): 863-75, 1989 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-2692405
18.
X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy.
J Bone Miner Res
; 7(6): 583-97, 1992 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-1414477
19.
Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders.
J Bone Miner Res
; 11(10): 1438-43, 1996 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-8889843
20.
Polycystic bone disease: A new, autosomal dominant disorder.
J Bone Miner Res
; 14(8): 1261-71, 1999 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-10457258