Research ExplorerScientific StaffNicole Maria Muschol

PD Dr.med. ID: 48191

Nicole Maria Muschol

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Affiliations

Publications

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Effects of Infantile Hypophosphatasia on Human Dental Tissue

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene

Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Sanfilippo syndrome: consensus guidelines for clinical care

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

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