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Natural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme.

the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…

Needs and problems of patients with a mitochondrial disease in the Netherlands.
Open interviews according to the grounded theory approach

Engelse tekst volgt indien onderzoeksvoorstel definitief moet worden voorgelegd aan de METC (in overleg met mevrouw Lilian Damen).

Ferriprive anemia in patients with erythropoietic protoporphyria

To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.

Phenotyping X-linked adrenoleukodystrophy (X-ALD) in women: a cohort study

1. What proportion of X-ALD carriers have symptoms en what are those symptoms (as evaluated by history, neurologic examination and electrophysiology)?2. At what age did symptoms fist manifest themselves and how is the progression of those symtpoms?3…

Small fibre neuropathy in Fabry*s disease

The objective is to get insight in the pathophysiology of small fibre neuropathy in Fabry patients. Insight in the pathophysiology will be obtained by:1. Describing results obtained by the QST protocol, skin biopsies and autonomic function tests in…

Effects of short term increase of phenylalanine levels
on neuropsychological functions and well-being
in adults with phenylketonuria: the *diet for life* study

To evaluate the effects of short term supplementation of Phe to levels comparable to levels observed in adult patients who fully discontinued their diet on neuropsychological functions and wellbeing of adult patients with PKU.

Celiac disease: interplay between genes and the environment. Towards the unraveling of disease initiating events.

The primary oblective of the study is to elucidate all molecular mechanisms leading to coeliac disease.In order to establish the scientific basis for the development of improved diagnostics, novel therapies and safer foods for patients, in the CDC:…

Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease. Long-term follow-up of patients receiving commercially available Myozyme

This study has been transitioned to CTIS with ID 2024-518269-92-00 check the CTIS register for the current data. The objective of the study is to gather more information about the long-term effect of enzyme therapy in patients with Pompe disease…