Marianne Rohrbach

Affiliations

Division of Metabolism, University Children's Hospital, 8032 Zürich, Switzerland.

Publications (14)

The Genetic Landscape and Epidemiology of Phenylketonuria.

American journal of human genetics

Avec: Alicia Hillert , Yair Anikster , Amaya Belanger-Quintana , Alberto Burlina , Barbara K Burton , Carla Carducci , Ana E Chiesa , John Christodoulou , Maja Đorđević , Lourdes R Desviat , Aviva Eliyahu , Roeland A F Evers , Lena Fajkusova , François Feillet , Pedro E Bonfim-Freitas , Maria Giżewska , Polina Gundorova , Daniela Karall , Katya Kneller , Sergey I Kutsev , Vincenzo Leuzzi , Harvey L Levy , Uta Lichter-Konecki , Ania C Muntau , Fares Namour , Mariusz Oltarzewski , Andrea Paras , Belen Perez , Emil Polak , Alexander V Polyakov , Francesco Porta , Marianne Rohrbach , Sabine Scholl-Bürgi , Norma Spécola , Maja Stojiljković , Nan Shen , Luiz C Santana-da Silva , Anastasia Skouma , Francjan van Spronsen , Vera Stoppioni , Beat Thöny , Friedrich K Trefz , Jerry Vockley , Youngguo Yu , Johannes Zschocke , Georg F Hoffmann , Sven F Garbade , Nenad Blau

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome.

Respiration; international review of thoracic diseases

Avec: Anna S Stöberl , Thomas Gaisl , Cecilia Giunta , Noriane A Sievi , Florian Singer , Alexander Möller , Marianne Rohrbach , Malcolm Kohler

Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.

Pediatric nephrology (Berlin, Germany)

Avec: Jenny Avarappattu , Ariana Gaspert , Giuseppina Spartà , Marianne Rohrbach

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between

Genes

Avec: Pei Jin Lim , Uschi Lindert , Lennart Opitz , Ingrid Hausser , Marianne Rohrbach , Cecilia Giunta

Altered Expression of

International journal of molecular sciences

Avec: Miriam Zink , Anne Seewald , Mareike Rohrbach , Andreas Brodehl , Daniel Liedtke , Tatjana Williams , Sarah J Childs , Brenda Gerull

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.

Molecular genetics and metabolism reports

Avec: Florin Bösch , Markus A Landolt , Matthias R Baumgartner , Susana Fernandez , Patrick Forny , Matthias Gautschi , Sarah C Grünert , Johannes Häberle , Carolina Horvath , Daniela Karall , Danila Lampis , Marianne Rohrbach , Sabine Scholl-Bürgi , Gabor Szinnai , Martina Huemer

Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.

Orphanet journal of rare diseases

Avec: Moritz Ilan Truninger , Helene Werner , Markus Andreas Landolt , Andreas Hahn , Julia B Hennermann , Florian B Lagler , Dorothea Möslinger , Charlotte Pfrimmer , Marianne Rohrbach , Martina Huemer

Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?

JIMD reports

Avec: Patrick Forny , Patricie Burda , Peter Bode , Marianne Rohrbach

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.

Scientific reports

Avec: Yoshihiro Ishikawa , Nobuyo Mizuno , Paul Holden , Pei Jin Lim , Douglas B Gould , Marianne Rohrbach , Cecilia Giunta , Hans Peter Bächinger

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel

Genes

Avec: Daisy Rymen , Marco Ritelli , Nicoletta Zoppi , Valeria Cinquina , Cecilia Giunta , Marianne Rohrbach , Marina Colombi

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked

Frontiers in genetics

Avec: Pei Jin Lim , Severin Marfurt , Uschi Lindert , Lennart Opitz , Timothée Ndarugendamwo , Pakeerathan Srikanthan , Martin Poms , Martin Hersberger , Claus-Dieter Langhans , Dorothea Haas , Marianne Rohrbach , Cecilia Giunta

Physiological cell bioprinting density in human bone-derived cell-laden scaffolds enhances matrix mineralization rate and stiffness under dynamic loading.

Frontiers in bioengineering and biotechnology

Avec: Anke M de Leeuw , Reto Graf , Pei Jin Lim , Jianhua Zhang , Gian Nutal Schädli , Sheila Peterhans , Marianne Rohrbach , Cecilia Giunta , Matthias Rüger , Marina Rubert , Ralph Müller

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.

Journal of inherited metabolic disease

Sestrin2 drives ER-phagy in response to protein misfolding.

Developmental cell

Avec: Chiara De Leonibus , Marianna Maddaluno , Rosa Ferriero , Roberta Besio , Laura Cinque , Pei Jin Lim , Alessandro Palma , Rossella De Cegli , Salvatore Gagliotta , Sandro Montefusco , Maria Iavazzo , Marianne Rohrbach , Cecilia Giunta , Elena Polishchuk , Diego Louis Medina , Diego Di Bernardo , Antonella Forlino , Pasquale Piccolo , Carmine Settembre

Réseau de co-auteurs

Cecilia Giunta 7 collaborations

Pei Jin Lim 5 collaborations

Martina Huemer 3 collaborations

Daniela Karall 2 collaborations

Sabine Scholl-Bürgi 2 collaborations

Uschi Lindert 2 collaborations

Lennart Opitz 2 collaborations

Patrick Forny 2 collaborations

Moritz Ilan Truninger 2 collaborations

Helene Werner 2 collaborations

Markus Andreas Landolt 2 collaborations

Andreas Hahn 2 collaborations

Julia B Hennermann 2 collaborations

Florian B Lagler 2 collaborations

Dorothea Möslinger 2 collaborations

Charlotte Pfrimmer 2 collaborations

Alicia Hillert 1 collaboration

Yair Anikster 1 collaboration

Amaya Belanger-Quintana 1 collaboration

Alberto Burlina 1 collaboration

Barbara K Burton 1 collaboration

Carla Carducci 1 collaboration

Ana E Chiesa 1 collaboration

John Christodoulou 1 collaboration

Maja Đorđević 1 collaboration

Lourdes R Desviat 1 collaboration

Aviva Eliyahu 1 collaboration

Roeland A F Evers 1 collaboration

Lena Fajkusova 1 collaboration

François Feillet 1 collaboration

Pedro E Bonfim-Freitas 1 collaboration

Maria Giżewska 1 collaboration

Polina Gundorova 1 collaboration

Katya Kneller 1 collaboration

Sergey I Kutsev 1 collaboration

Vincenzo Leuzzi 1 collaboration

Harvey L Levy 1 collaboration

Uta Lichter-Konecki 1 collaboration

Ania C Muntau 1 collaboration

Fares Namour 1 collaboration

Mariusz Oltarzewski 1 collaboration

Andrea Paras 1 collaboration

Belen Perez 1 collaboration

Emil Polak 1 collaboration

Alexander V Polyakov 1 collaboration

Francesco Porta 1 collaboration

Norma Spécola 1 collaboration

Maja Stojiljković 1 collaboration

Nan Shen 1 collaboration

Luiz C Santana-da Silva 1 collaboration

Anastasia Skouma 1 collaboration

Francjan van Spronsen 1 collaboration

Vera Stoppioni 1 collaboration

Beat Thöny 1 collaboration

Friedrich K Trefz 1 collaboration

Jerry Vockley 1 collaboration

Youngguo Yu 1 collaboration

Johannes Zschocke 1 collaboration

Georg F Hoffmann 1 collaboration

Sven F Garbade 1 collaboration

Nenad Blau 1 collaboration

Anna S Stöberl 1 collaboration

Thomas Gaisl 1 collaboration

Noriane A Sievi 1 collaboration

Florian Singer 1 collaboration

Alexander Möller 1 collaboration

Malcolm Kohler 1 collaboration

Jenny Avarappattu 1 collaboration

Ariana Gaspert 1 collaboration

Giuseppina Spartà 1 collaboration

Ingrid Hausser 1 collaboration

Miriam Zink 1 collaboration

Anne Seewald 1 collaboration

Mareike Rohrbach 1 collaboration

Andreas Brodehl 1 collaboration

Daniel Liedtke 1 collaboration

Tatjana Williams 1 collaboration

Sarah J Childs 1 collaboration

Brenda Gerull 1 collaboration

Florin Bösch 1 collaboration

Markus A Landolt 1 collaboration

Matthias R Baumgartner 1 collaboration

Susana Fernandez 1 collaboration

Matthias Gautschi 1 collaboration

Sarah C Grünert 1 collaboration

Johannes Häberle 1 collaboration

Carolina Horvath 1 collaboration

Danila Lampis 1 collaboration

Gabor Szinnai 1 collaboration

Patricie Burda 1 collaboration

Peter Bode 1 collaboration

Yoshihiro Ishikawa 1 collaboration

Nobuyo Mizuno 1 collaboration

Paul Holden 1 collaboration

Douglas B Gould 1 collaboration

Hans Peter Bächinger 1 collaboration

Daisy Rymen 1 collaboration

Marco Ritelli 1 collaboration

Nicoletta Zoppi 1 collaboration

Valeria Cinquina 1 collaboration

Marina Colombi 1 collaboration

Severin Marfurt 1 collaboration

Timothée Ndarugendamwo 1 collaboration

Pakeerathan Srikanthan 1 collaboration

Martin Poms 1 collaboration

Martin Hersberger 1 collaboration

Claus-Dieter Langhans 1 collaboration

Dorothea Haas 1 collaboration

Anke M de Leeuw 1 collaboration

Reto Graf 1 collaboration

Jianhua Zhang 1 collaboration

Gian Nutal Schädli 1 collaboration

Sheila Peterhans 1 collaboration

Matthias Rüger 1 collaboration

Marina Rubert 1 collaboration

Ralph Müller 1 collaboration

Chiara De Leonibus 1 collaboration

Marianna Maddaluno 1 collaboration

Rosa Ferriero 1 collaboration

Roberta Besio 1 collaboration

Laura Cinque 1 collaboration

Alessandro Palma 1 collaboration

Rossella De Cegli 1 collaboration

Salvatore Gagliotta 1 collaboration

Sandro Montefusco 1 collaboration

Maria Iavazzo 1 collaboration

Elena Polishchuk 1 collaboration

Diego Louis Medina 1 collaboration

Diego Di Bernardo 1 collaboration

Antonella Forlino 1 collaboration

Pasquale Piccolo 1 collaboration

Carmine Settembre 1 collaboration