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Maria Fuller

18PUBLICATIONS
26CO-AUTHORS
GlycobiologyGene expression (incl. microarray and other genome-wide approaches)Liquid biopsiesNeurology and neuromuscular diseasesRegenerative medicine (incl. stem cells)
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Journal

Publications (18)

Sort by Publication Date:
|Nov 06, 2025
Sphingolipids in Gaucher disease: a systematic review.

Ashleigh Lake, Maria Fuller

|Jan 24, 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.

Jasmina Markulić, Maria Fuller

|Dec 12, 2024
Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.

Annie Kleynerman, Jitka Rybova, William M McKillop

|May 25, 2023
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.

Murtaza S Nagree, Jitka Rybova, Annie Kleynerman

|Mar 17, 2022
Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders.

Murtaza S Nagree, Tania C Felizardo, Mary L Faber

|Feb 28, 2022
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.

Zackary M Herbst, Leslie Urdaneta, Terri Klein

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Frequent Collaborators

3 joint publications

Jeffrey A Medin

2 joint publications

Zackary M Herbst

2 joint publications

Leslie Urdaneta

2 joint publications

Annie Kleynerman

2 joint publications

Murtaza S Nagree

1 joint publications

Shoshana Revel-Vilk

1 joint publications

Jasmina Markulić

1 joint publications

Bruce Bennetts

1 joint publications

Bea Gutierrez

1 joint publications

Suzette Coat

Frequent Collaborators

3 joint publications

Jeffrey A Medin

2 joint publications

Zackary M Herbst

2 joint publications

Leslie Urdaneta

2 joint publications

Annie Kleynerman

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