Marianne Rohrbach

University of Zurich

Switzerland

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Articles (19)

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2025

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2025

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2025

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2025

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2021

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2021

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2021

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2021

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2020

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2020

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2020

Collaborators (11)

Jordi Maggi

University of Zurich

SWITZERLAND

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Cecilia Giunta

University of Zurich

SWITZERLAND

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LOURDES R DESVIAT

Full Professor

Universidad Autónoma de Madrid

SPAIN

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Daniel Weber

Professor for Pediatric Surgery (Titularprofessur)

University of Zurich

SWITZERLAND

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Patrick Forny

University of Zurich

SWITZERLAND

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Maria Giżewska

prof.

Pomeranian Medical University

POLAND

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Beat Thony

University of Zurich

SWITZERLAND

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Philip J. Broser

SWITZERLAND

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Markus Landolt

University of Zurich

SWITZERLAND

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Georg M. Stettner

Head of Neuromuscular Center

University Children's Hospital Zurich

SWITZERLAND

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Florian B Lagler

Head of Institute

Landeskrankenhaus Salzburg - Universitätsklinikum der Paracelsus Medizinischen Privatuniversität

AUSTRIA

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Marianne Rohrbach

Research Interests

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Articles (19)

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes.

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders

[Pediatrics. Diagnosis of generalized joint hypermobility in children].

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

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Sestrin2 drives ER-phagy in response to protein misfolding.

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

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

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

Etiology of Carpal Tunnel Syndrome in a Large Cohort of Children

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked <i>MBTPS2</i> Osteogenesis Imperfecta.

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

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

Increased augmentation index in patients with Ehlers-Danlos syndrome.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

The Genetic Landscape and Epidemiology of Phenylketonuria.

Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.

Collaborators (11)

Jordi Maggi

Cecilia Giunta

LOURDES R DESVIAT

Daniel Weber

Patrick Forny

Maria Giżewska

Beat Thony

Philip J. Broser

Markus Landolt

Georg M. Stettner

Florian B Lagler

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