For the latest publications of this PI visit Annet Bosch – Amsterdam UMC
Bosch, A.M. (Annet) a.m.bosch@amsterdamumc.nl
| Research line | Medication for Inborn Errors of Metabolism |
|---|---|
| Department | Pediatric Metabolic Diseases |
| Research Institute(s) | Amsterdam Gastroenterology Endocrinology Metabolism AR&D |
| Description | This research line is aimed at optimizing availability and quality of treatments for IEM. In cooperation with Medicine for Society |
| Seniors | • Annet M. Bosch PI • Carla Hollak PI |
| Projects | |
| Availability and reimbursement of treatments for Urea Cycle Disorders | Nina Stolwijk investigates vailability and reimbursement of treatments for Urea Cycle Disorders |
| Defining essential nutrients for IEM | Nina Stolwijk defines essential nutrients for IEM |
| Evaluating effectiveness of riboflavin in IEM | Nina Stolwijk evaluates effectiveness of riboflavin in IEM |
| Effectiveness and safety of PLP in PNPO deficiency | Nina Stolwijk investigates evaluates effectiveness and safety of PLP in PNPO deficiency |
| Research line | PKU |
|---|---|
| Department | Pediatric Metabolic Diseases |
| Research Institute(s) | Amsterdam Gastroenterology Endocrinology Metabolism AR&D |
| Description | This research line is aimed at Optimization of treatment and follow-up of patienten with Phenylketonuria (PKU) |
| Seniors | • Annet M. Bosch PI • Mirjam Langeveld PI |
| Projects | |
| Development on new international guideline for PKU (PKU Guidelines Group) | Development on new international guideline for PKU (PKU Guidelines Group) |
| Start of Phase III trial with new treatment | 2025: start of Phase III trial with new treatment |
| Participation in trial breastmilk feeding protocol in newborns with PKU | 2025: Nina Stolwijk participates in trial breastmilk feeding protocol in newborns with PKU |
| Research line | Newborn Screening |
|---|---|
| Department | Pediatric Metabolic Diseases |
| Research Institute(s) | Amsterdam Gastroenterology Endocrinology Metabolism AR&D |
| Description | This research line is aimed at Evaluation and optimization of current Dutch NBS programme Studies into implementation of new diseases into the Dutch NBS programme |
| Seniors | • Annet M. Bosch PI • Anita Boelen PI |
| Projects | |
| Klinische evaluatie van het 3-MCCD hielprikprogramma | Ryan Aukes is betrokken bij de klinische evaluatie van het 3-MCCD hielprikprogramma |
| Research line | Riboflavin Transporter Deficiency |
|---|---|
| Department | Pediatric Metabolic Diseases |
| Research Institute(s) | Amsterdam Gastroenterology Endocrinology Metabolism AR&D |
| Description | This research line is aimed at Improving diagnostics, treatment and follow up of patients with Riboflavin Transporter Deficiency |
| Seniors | • Annet M. Bosch PI • Nicole Wolf, PI • Bregje Jaeger |
| Projects | |
| Data mining study into undiagnosed patients | Bregje Jaeger contributes to the data mining study into undiagnosed patients |
| Evaluation of effectiveness of Riboflavin in patients with inborn errors of metabolism | Bregje Jaeger evaluates effectiveness of Riboflavin in patients with inborn errors of metabolism |
| Patient registry (Context of Metab ERN ECZA) | Bregje Jaeger contributes to patient registry (Context of Metab ERN ECZA) |
| Treatment optimization | Bregje Jaeger investigates treatment optimization |
| Omics studies into optimal biomarkers | Bregje Jaeger contributes to the omics studies into optimal biomarkers |
| Research line | Classical Galactosemia |
|---|---|
| Department | Pediatric Metabolic Diseases |
| Research Institute(s) | Amsterdam Gastroenterology Endocrinology Metabolism AR&D |
| Description | This researchline is aimed Firstly at elucidating the pathophysiology of the long term complications in Classical Galactosemia, Secondly at optimizing care, support and follow-up of patients with Classical Galactosemia |
| Seniors | • Annet M. Bosch PI • Cooperation in the studies aimed at elucidating Classical Galactosemia pathophysiology with Noam Zelcer, Sacha Ferdinandusse, Fred Vaz (Amsterdam UMC), Dirk Lefeber (UMCN) • Cooperation (board member) with the members of the Galactosemia Network, especially Estela Rubio (MUMC) |
| Projects | |
| The Elucidating Galactosemia studies | The Elucidating Galactosemia studies investigate metabolic processes and genetic dysregulation in a galactosemia cell model which was recently developed by us. At this time, the focus is on fluxomics and the study of lipid metabolism. |
| Revising the international Guidelines for Diagnosis and Follow Up of Classical galactosemia | On behalf of the Galactosemia Network and European Galactosemia Society Annet Bosch is in charge of revising the international Guidelines for Diagnosis and Follow Up of Classical galactosemia |
| Development of the European Care Pathway for Classical Galactosemia | On behalf of the European reference Network for Metabolic Diseases (Metab ERN) Annet Bosch is in charge of development of the European Care Pathway for Classical Galactosemia |
Last edited: 05-03-2026