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Medical and financial burden of acute intermittent porphyria

Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.809-817

2018

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Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.105-105, Article 105

2020

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Heme as an initial treatment for severe decompensation in tyrosinemia type 1

Genetics in medicine, 2020-02, Vol.22 (2), p.437-438

2020

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Clinical Remission of Delta‐Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis

Hepatology (Baltimore, Md.), 2019-07, Vol.70 (1), p.434-436

2019

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Liver involvement in patients with erythropoietic protoporphyria

Digestive and liver disease, 2022-04, Vol.54 (4), p.515-520

2022

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Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice

JAMA dermatology (Chicago, Ill.), 2020-05, Vol.156 (5), p.570

2020

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Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study

Molecular genetics and metabolism, 2022-03, Vol.135 (3), p.215-220

2022

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Afamelanotide for Erythropoietic Protoporphyria

The New England journal of medicine, 2015-07, Vol.373 (1), p.48-59

2015

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MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study

NeuroImage (Orlando, Fla.), 2021-12, Vol.245, p.118752-118752, Article 118752

2021

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Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria

Journal of investigative dermatology, 2011-11, Vol.131 (11), p.2249-2254

2011

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High cancer risk and increased mortality in patients with Peutz–Jeghers syndrome

Gut, 2011-02, Vol.60 (2), p.141-147

2011

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Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide

Journal of dermatology, 2023-04, Vol.50 (4), p.445-452

2023

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New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

Parkinsonism & related disorders, 2017-03, Vol.36, p.33-40

2017

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Insufficient Evidence of Cimetidine Benefit in Protoporphyria

JAMA dermatology (Chicago, Ill.), 2017-02, Vol.153 (2), p.237

2017

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Aceruloplasminemia: Neurodegeneration with brain iron accumulation associated with psychosis

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.195-196

2019

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Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration

NeuroImage clinical, 2021-01, Vol.30, p.102657-102657, Article 102657

2021

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Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib

Nature clinical practice. Gastroenterology & hepatology, 2008-04, Vol.5 (4), p.220-224

2008

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CARD15 mutations in Dutch familial and sporadic inflammatory bowel disease and an overview of European studies

European journal of gastroenterology & hepatology, 2007-06, Vol.19 (6), p.449-459

2007

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Nasal polyposis in Peutz–Jeghers syndrome: a distinct histopathological and molecular genetic entity

Journal of clinical pathology, 2007-04, Vol.60 (4), p.392-396

2007

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Correction to: Medical and financial burden of acute intermittent porphyria

Journal of inherited metabolic disease, 2018-11, Vol.41 (6), p.1297-1298

2018

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Randomized clinical trial of adenosine 5′-triphosphate on tumor growth and survival in advanced lung cancer patients

Anti-cancer drugs, 2003-09, Vol.14 (8), p.639-644

2003

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Acquired lysosomal storage caused by frequent plasmapheresis procedures with hydroxyethyl starch

Transfusion (Philadelphia, Pa.), 2006-10, Vol.46 (10), p.1705-1711

2006

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The impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria

The journal of clinical endocrinology and metabolism, 2024-10

2024

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Octreotide in patients with active ulcerative colitis treated with high dose corticosteroids (OPUS 1)

European journal of gastroenterology & hepatology, 2002-03, Vol.14 (3), p.243-248

2002

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Cyclooxygenase 2 Expression and Molecular Alterations in Peutz-Jeghers Hamartomas and Carcinomas

Clinical cancer research, 2003-08, Vol.9 (8), p.3065-3072

2003

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Medical and financial burden of acute intermittent porphyria

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Heme as an initial treatment for severe decompensation in tyrosinemia type 1

Clinical Remission of Delta‐Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis

Liver involvement in patients with erythropoietic protoporphyria

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice

Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study

Afamelanotide for Erythropoietic Protoporphyria

MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study

Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria

High cancer risk and increased mortality in patients with Peutz–Jeghers syndrome

Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients

Insufficient Evidence of Cimetidine Benefit in Protoporphyria

Aceruloplasminemia: Neurodegeneration with brain iron accumulation associated with psychosis

Quantification of different iron forms in the aceruloplasminemia brain to explore iron-related neurodegeneration

Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib

CARD15 mutations in Dutch familial and sporadic inflammatory bowel disease and an overview of European studies

Nasal polyposis in Peutz–Jeghers syndrome: a distinct histopathological and molecular genetic entity

Correction to: Medical and financial burden of acute intermittent porphyria

Randomized clinical trial of adenosine 5′-triphosphate on tumor growth and survival in advanced lung cancer patients

Acquired lysosomal storage caused by frequent plasmapheresis procedures with hydroxyethyl starch

The impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria

Octreotide in patients with active ulcerative colitis treated with high dose corticosteroids (OPUS 1)

Cyclooxygenase 2 Expression and Molecular Alterations in Peutz-Jeghers Hamartomas and Carcinomas

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