Detalhe da pesquisa
1.
Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study.
Osteoporos Int
; 33(12): 2595-2605, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986118
2.
Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease.
Calcif Tissue Int
; 111(6): 641-645, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916905
3.
Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
Calcif Tissue Int
; 105(6): 681-686, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31489468
4.
PDP type brain tumor in association with multiple endocrine neoplasia type 1.
Heliyon
; 10(6): e27418, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38510015
5.
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Eur J Med Genet
; 66(12): 104872, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37967791
6.
Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child.
J Pediatr Endocrinol Metab
; 35(5): 691-694, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120289
7.
Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation.
Bone
; 160: 116420, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35421614
8.
[Telomere biology disorders].
Ugeskr Laeger
; 184(28)2022 07 11.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-35959813
9.
Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.
Bone Rep
; 15: 101101, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258332
10.
Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.
Front Endocrinol (Lausanne)
; 11: 251, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32411094
11.
Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers.
Endocr Connect
; 8(7): 829-837, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31146262
12.
Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study.
Thyroid
; 29(3): 368-377, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30618340
13.
Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study.
Clin Epidemiol
; 11: 93-99, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30666164
14.
[Diagnostics and treatment of hypophosphatasia].
Ugeskr Laeger
; 180(35)2018 Aug 27.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-30152322
15.
Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study.
Clin Epidemiol
; 10: 1479-1487, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349395
16.
Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.
Endocr Connect
; 7(6): 829-839, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760189
17.
Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia.
Endocrinol Diabetes Metab Case Rep
; 20172017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28458896
18.
Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma.
Res Rep Urol
; 9: 113-119, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28721348
19.
Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study.
J Bone Miner Res
; 32(10): 2041-2048, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603900
20.
Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.
Thyroid
; 27(12): 1505-1510, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29020875