Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial

Autor: Roman Trepp, Raphaela Muri, Stephanie Abgottspon, Lenka Bosanska, Michel Hochuli, Johannes Slotboom, Christian Rummel, Roland Kreis, Regula Everts

Publikováno v: Trials, Vol 21, Iss 1, Pp 1-11 (2020)

Abstract Background The population of adult patients with early-treated phenylketonuria (PKU) following newborn screening is growing substantially. The ideal target range of blood phenylalanine (Phe) levels in adults outside pregnancy is a matter of

Externí odkaz: https://doaj.org/article/115cb05b825b4877afd5fbdb6481af0d

Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany.

Autor: Hansjörg Dilger, Linn Leissner, Lenka Bosanska, Christina Lampe, Ursula Plöckinger

Publikováno v: PLoS ONE, Vol 8, Iss 6, p e66804 (2013)

IntroductionMucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). Of the thirty-one patients registered in Germany, almost fifty percent have a Turkish migration backgr

Externí odkaz: https://doaj.org/article/a862121436bf460aa9552e4e48043b48

Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial

Autor: Lenka Bosanska, Christian Rummel, Roland Kreis, Roman Trepp, Regula Everts, Michel Hochuli, Raphaela Muri, Stephanie Abgottspon, Johannes Slotboom

Publikováno v: Trials, Vol 21, Iss 1, Pp 1-11 (2020)
Trials
Trepp, Roman; Muri, Raphaela; Abgottspon, Stephanie; Bosanska, Lenka; Hochuli, Michel; Slotboom, Johannes; Rummel, Christian; Kreis, Roland; Everts, Regula (2020). Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): a randomized, placebo-controlled, crossover, noninferiority trial. Trials, 21(1), p. 178. BioMed Central 10.1186/s13063-019-4022-z

BackgroundThe population of adult patients with early-treated phenylketonuria (PKU) following newborn screening is growing substantially. The ideal target range of blood phenylalanine (Phe) levels in adults outside pregnancy is a matter of debate. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::554a2f93873d5716e145be02362c937e
https://doi.org/10.1186/s13063-019-4022-z

MON-189 Glycemic Control and the Presence of Complications in Glycogen Storage Disease Type I: Results from the Swiss Registry

Autor: Michel Hochuli, Matthias R. Baumgartner, Nathalie Kaiser, Matthias Gautschi, Lenka Bosanska, Giatgen A. Spinas, Fabian Meienberg

Publikováno v: Journal of the Endocrine Society

Background: Regular carbohydrate intake to avoid hypoglycemia is the mainstay of dietary treatment in glycogen storage disease type I (GSDI). The aim of this study was to evaluate the quality of dietary treatment and glycemic control in a cohort of G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06adae12ce3b91e540fb820b6b434f54
https://doi.org/10.1210/js.2019-mon-189

Multiple, Successful Pregnancies in Pompe Disease

Autor: Bettina Temmesfeld-Wollbrueck, Lenka Bosanska, Viktor Mezger, Ursula Plöckinger, Gabriele Gossing, Nikolaus Tiling, Kerstin Irlbacher

Publikováno v: JIMD Reports ISBN: 9783662528464

Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462ba97162cabd35f3ae1ab17644c706
https://pubmed.ncbi.nlm.nih.gov/26572913