Roland Posset

Affiliations

Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Publications (20)

Health Outcomes of Infants with Vitamin B

The Journal of pediatrics

Avec: Ulrike Mütze , Magdalena Walter , Mareike Keller , Gwendolyn Gramer , Sven F Garbade , Florian Gleich , Dorothea Haas , Roland Posset , Sarah C Grünert , Julia B Hennermann , Eva Thimm , Junmin Fang-Hoffmann , Steffen Syrbe , Jürgen G Okun , Georg F Hoffmann , Stefan Kölker

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Human mutation

Avec: Matthias Zielonka , Sven F Garbade , Florian Gleich , Jürgen G Okun , Sandesh C S Nagamani , Andrea L Gropman , Georg F Hoffmann , Stefan Kölker , Roland Posset , Auteur inconnu

Newborn Screening for Vitamin B

The Journal of pediatrics

Avec: Gwendolyn Gramer , Junmin Fang-Hoffmann , Patrik Feyh , Glynis Klinke , Peter Monostori , Ulrike Mütze , Roland Posset , Karl Heinz Weiss , Georg F Hoffmann , Jürgen G Okun

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

Annals of clinical and translational neurology

Avec: Svenja Scharre , Roland Posset , Sven F Garbade , Florian Gleich , Marie J Seidl , Ann-Catrin Druck , Jürgen G Okun , Andrea L Gropman , Sandesh C S Nagamani , Georg F Hoffmann , Stefan Kölker , Matthias Zielonka , Auteur inconnu

Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.

Journal of inherited metabolic disease

Avec: Ulrike Mütze , Sven F Garbade , Florian Gleich , Martin Lindner , Peter Freisinger , Julia B Hennermann , Eva Thimm , Gwendolyn Gramer , Roland Posset , Johannes Krämer , Sarah C Grünert , Georg F Hoffmann , Stefan Kölker

Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae.

Experimental neurology

Avec: Joris Probst , Stefan Kölker , Jürgen G Okun , Amrish Kumar , Eduard Gursky , Roland Posset , Georg F Hoffmann , Ravindra Peravali , Matthias Zielonka

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

Molecular genetics and metabolism

Avec: Roland Posset , Stefan Kölker , Florian Gleich , Jürgen G Okun , Andrea L Gropman , Sandesh C S Nagamani , Svenja Scharre , Joris Probst , Magdalena E Walter , Georg F Hoffmann , Sven F Garbade , Matthias Zielonka , Auteur inconnu

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

Molecular genetics and metabolism

Avec: Marie J Seidl , Svenja Scharre , Roland Posset , Ann-Catrin Druck , Friederike Epp , Jürgen G Okun , Bianca Dimitrov , Georg F Hoffmann , Stefan Kölker , Matthias Zielonka

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Journal of inherited metabolic disease

Avec: Anna T Reischl-Hajiabadi , Elena Schnabel , Florian Gleich , Katharina Mengler , Martin Lindner , Peter Burgard , Roland Posset , Svenja Lommer-Steinhoff , Sarah C Grünert , Eva Thimm , Peter Freisinger , Julia B Hennermann , Johannes Krämer , Gwendolyn Gramer , Dominic Lenz , Stine Christ , Friederike Hörster , Georg F Hoffmann , Sven F Garbade , Stefan Kölker , Ulrike Mütze

The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.

Journal of inherited metabolic disease

Avec: Roland Posset , Matthias Zielonka , Florian Gleich , Sven F Garbade , Georg F Hoffmann , Stefan Kölker , Auteur inconnu

Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.

JIMD reports

Avec: Pascale de Lonlay , Roland Posset , Ulrike Mütze , Karine Mention , Delphine Lamireau , Manuel Schiff , Aude Servais , Jean Baptiste Arnoux , Anaïs Brassier , Myriam Dao , Claire Douillard , Chris Ottolenghi , Clément Pontoizeau , Federica Miotto , Jeannie Le Mouhaër

Early prediction of phenotypic severity in Citrullinemia Type 1.

Annals of clinical and translational neurology

Avec: Matthias Zielonka , Stefan Kölker , Florian Gleich , Nicolas Stützenberger , Sandesh C S Nagamani , Andrea L Gropman , Georg F Hoffmann , Sven F Garbade , Roland Posset , Auteur inconnu

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Annals of neurology

Avec: Roland Posset , Andrea L Gropman , Sandesh C S Nagamani , Lindsay C Burrage , Jirair K Bedoyan , Derek Wong , Gerard T Berry , Matthias R Baumgartner , Marc Yudkoff , Matthias Zielonka , Georg F Hoffmann , Peter Burgard , Andreas Schulze , Shawn E McCandless , Angeles Garcia-Cazorla , Jennifer Seminara , Sven F Garbade , Stefan Kölker , Auteur inconnu

Unmet Needs of Parents of Children with Urea Cycle Disorders.

Children (Basel, Switzerland)

Avec: Mara Scharping , Heiko Brennenstuhl , Sven F Garbade , Beate Wild , Roland Posset , Matthias Zielonka , Stefan Kölker , Markus W Haun , Thomas Opladen

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Journal of inherited metabolic disease

Avec: Nikolas Boy , Chris Mühlhausen , Esther M Maier , Diana Ballhausen , Matthias R Baumgartner , Skadi Beblo , Peter Burgard , Kimberly A Chapman , Dries Dobbelaere , Jana Heringer-Seifert , Sandra Fleissner , Karina Grohmann-Held , Gabriele Hahn , Inga Harting , Georg F Hoffmann , Frank Jochum , Daniela Karall , Vassiliki Konstantopoulous , Michael B Krawinkel , Martin Lindner , E M Charlotte Märtner , Jean-Marc Nuoffer , Jürgen G Okun , Barbara Plecko , Roland Posset , Katja Sahm , Sabine Scholl-Bürgi , Eva Thimm , Magdalena Walter , Monique Williams , Stephan Vom Dahl , Athanasia Ziagaki , Johannes Zschocke , Stefan Kölker

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Scientific reports

Avec: Roland Posset , Sven F Garbade , Florian Gleich , Andrea L Gropman , Pascale de Lonlay , Georg F Hoffmann , Angeles Garcia-Cazorla , Sandesh C S Nagamani , Matthias R Baumgartner , Andreas Schulze , Dries Dobbelaere , Marc Yudkoff , Stefan Kölker , Matthias Zielonka , Auteur inconnu , Auteur inconnu

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Journal of inherited metabolic disease

Avec: Roland Posset , Sven F Garbade , Nikolas Boy , Alberto B Burlina , Carlo Dionisi-Vici , Dries Dobbelaere , Angeles Garcia-Cazorla , Pascale de Lonlay , Elisa Leão Teles , Roshni Vara , Nicholas Ah Mew , Mark L Batshaw , Matthias R Baumgartner , Shawn E McCandless , Jennifer Seminara , Marshall Summar , Georg F Hoffmann , Stefan Kölker , Peter Burgard , Auteur inconnu

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Roland Posset , Sven F Garbade , Florian Gleich , Svenja Scharre , Jürgen G Okun , Andrea L Gropman , Sandesh C S Nagamani , Ann-Catrin Druck , Friederike Epp , Georg F Hoffmann , Stefan Kölker , Matthias Zielonka , Auteur inconnu , Auteur inconnu

Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.

Molecular genetics and metabolism

Avec: Roland Posset , Sven F Garbade , Florian Gleich , Sandesh C S Nagamani , Andrea L Gropman , Friederike Epp , Nesrine Ramdhouni , Ann-Catrin Druck , Georg F Hoffmann , Stefan Kölker , Matthias Zielonka , Auteur inconnu

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Molecular genetics and metabolism

Avec: Matthias Zielonka , Stefan Kölker , Sven F Garbade , Florian Gleich , Sandesh C S Nagamani , Andrea L Gropman , Ann-Catrin Druck , Nesrine Ramdhouni , Laura Göde , Georg F Hoffmann , Roland Posset , Auteur inconnu

Réseau de co-auteurs

Georg F Hoffmann 18 collaborations

Stefan Kölker 18 collaborations

Sven F Garbade 15 collaborations

Matthias Zielonka 13 collaborations

None None 13 collaborations

Florian Gleich 12 collaborations

Jürgen G Okun 9 collaborations

Sandesh C S Nagamani 9 collaborations

Andrea L Gropman 9 collaborations

Ulrike Mütze 5 collaborations

Ann-Catrin Druck 5 collaborations

Gwendolyn Gramer 4 collaborations

Eva Thimm 4 collaborations

Svenja Scharre 4 collaborations

Peter Burgard 4 collaborations

Matthias R Baumgartner 4 collaborations

Sarah C Grünert 3 collaborations

Julia B Hennermann 3 collaborations

Martin Lindner 3 collaborations

Friederike Epp 3 collaborations

Pascale de Lonlay 3 collaborations

Angeles Garcia-Cazorla 3 collaborations

Dries Dobbelaere 3 collaborations

Magdalena Walter 2 collaborations

Junmin Fang-Hoffmann 2 collaborations

Marie J Seidl 2 collaborations

Peter Freisinger 2 collaborations

Johannes Krämer 2 collaborations

Joris Probst 2 collaborations

Marc Yudkoff 2 collaborations

Andreas Schulze 2 collaborations

Shawn E McCandless 2 collaborations

Jennifer Seminara 2 collaborations

Nikolas Boy 2 collaborations

Nesrine Ramdhouni 2 collaborations

Mareike Keller 1 collaboration

Dorothea Haas 1 collaboration

Steffen Syrbe 1 collaboration

Patrik Feyh 1 collaboration

Glynis Klinke 1 collaboration

Peter Monostori 1 collaboration

Karl Heinz Weiss 1 collaboration

Amrish Kumar 1 collaboration

Eduard Gursky 1 collaboration

Ravindra Peravali 1 collaboration

Magdalena E Walter 1 collaboration

Bianca Dimitrov 1 collaboration

Anna T Reischl-Hajiabadi 1 collaboration

Elena Schnabel 1 collaboration

Katharina Mengler 1 collaboration

Svenja Lommer-Steinhoff 1 collaboration

Dominic Lenz 1 collaboration

Stine Christ 1 collaboration

Friederike Hörster 1 collaboration

Karine Mention 1 collaboration

Delphine Lamireau 1 collaboration

Manuel Schiff 1 collaboration

Aude Servais 1 collaboration

Jean Baptiste Arnoux 1 collaboration

Anaïs Brassier 1 collaboration

Myriam Dao 1 collaboration

Claire Douillard 1 collaboration

Chris Ottolenghi 1 collaboration

Clément Pontoizeau 1 collaboration

Federica Miotto 1 collaboration

Jeannie Le Mouhaër 1 collaboration

Nicolas Stützenberger 1 collaboration

Lindsay C Burrage 1 collaboration

Jirair K Bedoyan 1 collaboration

Derek Wong 1 collaboration

Gerard T Berry 1 collaboration

Mara Scharping 1 collaboration

Heiko Brennenstuhl 1 collaboration

Beate Wild 1 collaboration

Markus W Haun 1 collaboration

Thomas Opladen 1 collaboration

Chris Mühlhausen 1 collaboration

Esther M Maier 1 collaboration

Diana Ballhausen 1 collaboration

Skadi Beblo 1 collaboration

Kimberly A Chapman 1 collaboration

Jana Heringer-Seifert 1 collaboration

Sandra Fleissner 1 collaboration

Karina Grohmann-Held 1 collaboration

Gabriele Hahn 1 collaboration

Inga Harting 1 collaboration

Frank Jochum 1 collaboration

Daniela Karall 1 collaboration

Vassiliki Konstantopoulous 1 collaboration

Michael B Krawinkel 1 collaboration

E M Charlotte Märtner 1 collaboration

Jean-Marc Nuoffer 1 collaboration

Barbara Plecko 1 collaboration

Katja Sahm 1 collaboration

Sabine Scholl-Bürgi 1 collaboration

Monique Williams 1 collaboration

Stephan Vom Dahl 1 collaboration

Athanasia Ziagaki 1 collaboration

Johannes Zschocke 1 collaboration

Alberto B Burlina 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Elisa Leão Teles 1 collaboration

Roshni Vara 1 collaboration

Nicholas Ah Mew 1 collaboration

Mark L Batshaw 1 collaboration

Marshall Summar 1 collaboration

Laura Göde 1 collaboration