Detalhe da pesquisa
1.
Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review.
J Inherit Metab Dis
; 43(5): 922-933, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246457
2.
Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study.
Nephrol Dial Transplant
; 34(9): 1525-1533, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535327
3.
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Hered Cancer Clin Pract
; 14: 13, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27279923
4.
Exploring the experiences of people with hypo- and hyperthyroidism.
Qual Health Res
; 25(7): 945-53, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294349
5.
Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study.
Lancet Reg Health Eur
; 28: 100598, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891552
6.
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.
Mol Genet Metab
; 104(3): 314-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21641253
7.
Autonomic skin responses in females with Fabry disease.
J Peripher Nerv Syst
; 14(3): 159-64, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19909479
8.
Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy.
JIMD Rep
; 44: 93-101, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30117110
9.
Affective symptoms and cognitive functions in the acute phase of Graves' thyrotoxicosis.
Psychoneuroendocrinology
; 32(1): 36-43, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17097812
10.
The impact of severe hypoglycemia and impaired awareness of hypoglycemia on relatives of patients with type 1 diabetes.
Diabetes Care
; 26(4): 1106-9, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12663581
11.
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.
Horm Res Paediatr
; 73(2): 115-9, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20190548
12.
Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice.
J Am Soc Nephrol
; 18(3): 698-706, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17287429
13.
Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin.
J Peripher Nerv Syst
; 11(2): 119-25, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16787509
14.
Severe hypoglycaemia in 1076 adult patients with type 1 diabetes: influence of risk markers and selection.
Diabetes Metab Res Rev
; 20(6): 479-86, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15386817