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Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37320-0
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- Publication type:
- Article
Type I Gaucher, Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance.
- Published in:
- Diabetes, 2007, v. 56, p. A341
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- Publication type:
- Article
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5784, doi. 10.3390/ijms21165784
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- Publication type:
- Article
The long-term effect of energy restricted diets for treating obesity.
- Published in:
- Obesity (19307381), 2015, v. 23, n. 8, p. 1529, doi. 10.1002/oby.21146
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- Publication type:
- Article
ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study.
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- Diagnostics (2075-4418), 2023, v. 13, n. 3, p. 354, doi. 10.3390/diagnostics13030354
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- Publication type:
- Article
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02735-0
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- Publication type:
- Article
Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 845, doi. 10.1210/jc.2007-1702
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- Publication type:
- Article
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
- Published in:
- 2016
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- Publication type:
- journal article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
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- Publication type:
- Article
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 386, doi. 10.1002/jimd.12475
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- Publication type:
- Article
Cognitive functioning and depressive symptoms in Fabry disease: A follow‐up study.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1070, doi. 10.1002/jimd.12271
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- Publication type:
- Article
Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 969, doi. 10.1002/jimd.12266
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- Publication type:
- Article
Developments in the treatment of Fabry disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 908, doi. 10.1002/jimd.12228
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- Publication type:
- Article
Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 787, doi. 10.1002/jimd.12217
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- Publication type:
- Article
Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 424, doi. 10.1002/jimd.12193
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- Publication type:
- Article
Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 414, doi. 10.1002/jimd.12075
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- Publication type:
- Article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
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- Publication type:
- Article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
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- Publication type:
- Article
Mucolipidosis type III, a series of adult patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 839, doi. 10.1007/s10545-018-0186-z
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- Publication type:
- Article
The role of the clinician in the multi-omics era: are you ready?
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
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- Publication type:
- Article
Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2015, v. 24, n. 4, p. 515, doi. 10.15403/jgld.2014.1121.244.had
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- Publication type:
- Article
Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy.
- Published in:
- Neonatology (16617800), 2022, v. 119, n. 6, p. 777, doi. 10.1159/000526334
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- Publication type:
- Article
Riboflavin transporter deficiency in young adults unmasked by dietary changes.
- Published in:
- 2024
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- Publication type:
- Case Study
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Neonatal carnitine concentrations in relation to gestational age and weight.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
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- Publication type:
- Article
Education and training in adult metabolic medicine: Results of an international survey.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 63, doi. 10.1002/jmd2.12044
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- Publication type:
- Article
The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 53, doi. 10.1002/jmd2.12036
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- Publication type:
- Article
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1206106
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- Publication type:
- Article
Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real‐World Data.
- Published in:
- Clinical Pharmacology & Therapeutics, 2019, v. 106, n. 5, p. 925, doi. 10.1002/cpt.1536
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- Publication type:
- Article
Registries for orphan drugs: generating evidence or marketing tools?
- Published in:
- 2020
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- Publication type:
- journal article
Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
- Published in:
- 2022
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- Publication type:
- journal article