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Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

Nephrology, dialysis, transplantation, 2019-09, Vol.34 (9), p.1525-1533

2019

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Exploring the Experiences of People With Hypo- and Hyperthyroidism

Qualitative health research, 2015-07, Vol.25 (7), p.945-953

2015

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Is the alpha‐galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.922-933

2020

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The Impact of Severe Hypoglycemia and Impaired Awareness of Hypoglycemia on Relatives of Patients With Type 1 Diabetes

Diabetes care, 2003-04, Vol.26 (4), p.1106-1109

2003

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Distribution of α-galactosidase a in normal human kidney and renal accumulation and distribution of recombinant α-galactosidase a in fabry mice

Journal of the American Society of Nephrology, 2007-03, Vol.18 (3), p.698-706

2007

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Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion

Molecular genetics and metabolism, 2011-11, Vol.104 (3), p.314-318

2011

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Autonomic skin responses in females with Fabry disease

Journal of the peripheral nervous system, 2009-09, Vol.14 (3), p.159-164

2009

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Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation

Hormone research in paediatrics, 2010-01, Vol.73 (2), p.115-119

2010

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Affective symptoms and cognitive functions in the acute phase of Graves’ thyrotoxicosis

Psychoneuroendocrinology, 2007-01, Vol.32 (1), p.36-43

2007

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Severe hypoglycaemia in 1076 adult patients with type 1 diabetes: influence of risk markers and selection

Diabetes/metabolism research and reviews, 2004-11, Vol.20 (6), p.479-486

2004

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Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study

The Lancet regional health. Europe, 2023-05, Vol.28, p.100598-100598, Article 100598

2023

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Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

Journal of the peripheral nervous system, 2006-06, Vol.11 (2), p.119-125

2006

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Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

Hereditary cancer in clinical practice, 2016-06, Vol.14 (1), p.13-13, Article 13

2016

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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 Reports, Volume 44, 2019, Vol.44, p.93-101

2019

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Real world evidence study of Danish patients with Fabry disease: A 20-year longitudinal retrospective analysis of prospectively collected data

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107096, Article 107096

2023

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The chronic autoimmune thyroiditis quality of life selenium trial (CATALYST): study protocol for a randomized controlled trial

Trials, 2014-04, Vol.15 (1), p.115-115, Article 115

2014

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Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

Familial cancer, 2021-10, Vol.20 (4), p.337-348

2021

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7955 Increased occurrence of psychiatric disorders and use of psychiatric-related medication in patients with congenital adrenal hyperplasia

Journal of the Endocrine Society, 2024-10, Vol.8 (Supplement_1)

2024

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7955 Increased occurrence of psychiatric disorders and use of psychiatric-related medication in patients with congenital adrenal hyperplasia

Journal of the Endocrine Society, 2024-10, Vol.8 (Supplement_1)

2024

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Fabry disease: renal function during long-term enzyme replacement therapy evaluated by gold standard GFR 51Cr-EDTA clearance

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S90-S90

2017

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Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based studyResearch in context

The Lancet regional health. Europe, 2023-05, Vol.28, p.100598

2023

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Response: The Benefits of Invasive Treatment of Fetal Goitrous Hypothyroidism in Maternal Graves' Disease

Thyroid (New York, N.Y.), 2011-08, Vol.21 (8), p.932-933

2011

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P1-141: Affective symptoms and cognitive functions in the acute phase of Graves’ thyrotoxicosis

Alzheimer's & dementia, 2006-07, Vol.2 (3), p.S137-S137

2006

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Drug Effects and Thyroid Function

Encyclopedia of Endocrine Diseases, Second Edition, 2019, p.772-779

Second Edition, 2019

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The Effects of Interleukin-1β (IL-1β) on Human Thyrocyte Functions Are Counteracted by the IL-1 Receptor Antagonist

Endocrinology (Philadelphia), 1997-05, Vol.138 (5), p.2043-2048

1997

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Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

Exploring the Experiences of People With Hypo- and Hyperthyroidism

Is the alpha‐galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review

The Impact of Severe Hypoglycemia and Impaired Awareness of Hypoglycemia on Relatives of Patients With Type 1 Diabetes

Distribution of α-galactosidase a in normal human kidney and renal accumulation and distribution of recombinant α-galactosidase a in fabry mice

Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion

Autonomic skin responses in females with Fabry disease

Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation

Affective symptoms and cognitive functions in the acute phase of Graves’ thyrotoxicosis

Severe hypoglycaemia in 1076 adult patients with type 1 diabetes: influence of risk markers and selection

Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study

Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

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

Real world evidence study of Danish patients with Fabry disease: A 20-year longitudinal retrospective analysis of prospectively collected data

The chronic autoimmune thyroiditis quality of life selenium trial (CATALYST): study protocol for a randomized controlled trial

Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group

7955 Increased occurrence of psychiatric disorders and use of psychiatric-related medication in patients with congenital adrenal hyperplasia

7955 Increased occurrence of psychiatric disorders and use of psychiatric-related medication in patients with congenital adrenal hyperplasia

Fabry disease: renal function during long-term enzyme replacement therapy evaluated by gold standard GFR 51Cr-EDTA clearance

Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based studyResearch in context

Response: The Benefits of Invasive Treatment of Fetal Goitrous Hypothyroidism in Maternal Graves' Disease

P1-141: Affective symptoms and cognitive functions in the acute phase of Graves’ thyrotoxicosis

Drug Effects and Thyroid Function

The Effects of Interleukin-1β (IL-1β) on Human Thyrocyte Functions Are Counteracted by the IL-1 Receptor Antagonist

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