Margreet Wagenmakers

Transplantation as disease modifying therapy in the era of gene therapy medicinal products – health policy considerations

Margreet Wagenmakers, Anna Lehman, Caroline den Hoed, Laura van Dussen et autres

BACKGROUND: New gene therapy medicinal products [GTMP] are being considered as alternatives to liver transplant [LTx] for some patients with inherited metabolic diseases [IMDs] but pose unique challenges for health policy makers. METHODS: Published data on LTx and GTMP in human patients …

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Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs

Karina A. Zeyer, Terry G.J. Derks, Mirjam Langeveld, Elaine Murphy et autres

BACKGROUND: Long-chain fatty acid oxidation disorders (LcFAODs) are rare inherited disorders associated with impaired energy metabolism and increased risk of metabolic decompensation during catabolic stress. With improved diagnosis and care, affected women reach reproductive age, making pregnancy management an emerging clinical challenge. …

de, nl, gb, it, tr, in, us, fr, sk, be, ch, cn, hk, es, at, au, ie, fi, Maroc, dk, ca, jp, se, no (code pays fourni par la source)

Toward standardized care: International expert survey on pregnancy management in long-chain fatty acid oxidation disorders and unmet needs.

Karina A. Zeyer, Terry G J Derks, Mirjam Langeveld, Elaine Murphy et autres

Background Long-chain fatty acid oxidation disorders (LcFAODs) are rare inherited disorders associated with impaired energy metabolism and increased risk of metabolic decompensation during catabolic stress. With improved diagnosis and care, affected women reach reproductive age, making pregnancy management an emerging clinical challenge.Methods …

Pregnancies in Women With Long‐Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey

Sarah Catharina Grünert, Mirjam Langeveld, Lisa Rudolph, Ute Spiekerkoetter et autres

Long-chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child-bearing age. So far, little …

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Levende donor-domino-levertransplantatie met methylmalonacidemie-patiënt als donor

Chantal Peltenburg, Mark Wijnen, Sandra Coenen, Caroline den Hoed et autres

Patiënten met de erfelijke metabole ziekte methylmalonacidemie (MMA) kunnen bij progressieve ziekte of frequente acute ontregelingen in aanmerking komen voor een levertransplantatie. In het Erasmus MC werd voor het eerst een levende-donorlevertransplantatie verricht bij een MMA-patiënt die vervolgens zijn lever doneerde aan …