Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

Petra Oliva · SciRah

Researcher profile · Semantic Scholar

Petra Oliva

Share profile

Petra Oliva — researcher profile on SciRah

h-index: 10
Works: 57
Citations: 896

Most-cited papers

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
R. Alcalay, O. Levy, C. Waters, S. Fahn +13 more
2015Brain : a journal of neurology384 citations Open access
Semantic Scholar
SMPD1 mutations, activity and α-synuclein accumulation in Parkinson’s disease
R. Alcalay, Victoria Mallett, Benoît Vanderperre, Omid Tavassoly +30 more
2019Movement Disorders112 citations Open access
Semantic Scholar
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies
L. Krohn, Tuğba Nur Öztürk, Benoît Vanderperre, Bouchra Ouled Amar Bencheikh +33 more
2019Annals of Neurology95 citations Open access
Semantic Scholar
Alpha galactosidase A activity in Parkinson’s disease
R. Alcalay, Pavlina Wolf, O. Levy, U. Kang +17 more
2018Neurobiology of Disease72 citations Open access
Semantic Scholar
Cerebrospinal fluid proteomics implicates the granin family in Parkinson’s disease
M. Rotunno, M. Lane, Wen-Fei Zhang, Pavlina Wolf +8 more
2020Scientific Reports70 citations Open access
Semantic Scholar
SCARB2 variants and glucocerebrosidase activity in Parkinson's disease
R. Alcalay, O. Levy, Pavlina Wolf, Petra Oliva +14 more
2016npj Parkinson's Disease50 citations Open access
Semantic Scholar
Diagnostic strategy for females suspected of Fabry disease
Sukirthini Balendran, Petra Oliva, S. Sansen, T. Mechtler +4 more
2019Clinical Genetics33 citations
Semantic Scholar
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.
L. Laugwitz, T. Mechtler, N. Janzen, Petra Oliva +18 more
2024New England Journal of Medicine22 citations
Semantic Scholar
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
S. Bekri, Annette Bley, Heather A Brown, C. Chanson +11 more
2024Molecular Genetics and Metabolism13 citations
Semantic Scholar
Tandem mass spectrometry assay of β-Glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay
Pavlina Wolf, R. Alcalay, Christopher Liong, E. Cullen +11 more
2017Molecular Genetics and Metabolism13 citations Open access
Semantic Scholar
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Petra Oliva, Markus Schwarz, T. Mechtler, S. Sansen +4 more
2023Molecular Genetics and Metabolism9 citations
Semantic Scholar
Newborn Screening for Metachromatic Leukodystrophy: Preparation of Reagents and Methodology for Measurement of Sulfatides and Arylsulfatase A Enzymatic Activity in Dried Blood Spots
Austin B. Shaff, K. Basheeruddin, S. Bekri, Heather A Brown +12 more
2025Molecular Genetics and Metabolism7 citations Open access
Semantic Scholar
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease
Sukirthini Balendran-Braun, U. Vinatzer, Sandra Liebmann-Reindl, M. Lux +5 more
2024Human Mutation4 citations Open access
Semantic Scholar
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Z. Lukács, Petra Oliva, Paulina Nieves Cobos, Jacob B. Scott +2 more
2020International Journal of Neonatal Screening4 citations Open access
Semantic Scholar
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate
Wei-Lien Chuang, J. Pacheco, Samantha K. Cooper, J. Kingsbury +6 more
2015Molecular Genetics and Metabolism Reports4 citations Open access
Semantic Scholar
Newborn screening for metachromatic leukodystrophy (MLD): An overview of ongoing and future studies
Michael H. Gelb, M. Wasserstein, Joseph J. Orsini, Petra Oliva +5 more
2023Molecular Genetics and Metabolism3 citations
Semantic Scholar
Association of low lysosomal enzymes activity with brain arterial dilatation: a pilot study
H. Shah, Christopher Liong, O. Levy, C. Waters +8 more
2018Stroke3 citations Open access
Semantic Scholar
A MLD newborn screening pilot-study for metachromatic leukodystrophy in Germany: Results of the first 12 months
Petra Oliva, T. Mechtler, Markus Schwarz, B. Streubel +3 more
2023Molecular Genetics and Metabolism2 citations
Semantic Scholar
Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet
Thomas Wiesinger, Markus Schwarz, Petra Oliva, Thomas P. Mechtler +7 more
2021Molecular Genetics and Metabolism2 citations Open access
Semantic Scholar
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
C. Domínguez-gonzález, Domenico Iannucci, James Clark, Paloma Martín-Jiménez +5 more
2026Neuromuscular Disorders1 citations Open access
Semantic Scholar
Newborn screening for metachromatic leukodystrophy in northern Germany
Petra Oliva, T. Mechtler, Markus Schwarz, B. Streubel +4 more
2022Molecular Genetics and Metabolism1 citations
Semantic Scholar
Expansion of immature, nucleated red blood cells by transient low‐dose methotrexate immune tolerance induction in mice
J. Tran, D. Grover, Mindy Zhang, M. Stapels +9 more
2020Clinical and Experimental Immunology1 citations Open access
Semantic Scholar
Glucocerebrosidase activity in Parkinson disease with and without GBA mutations (S7.003)
R. Alcalay, O. Levy, C. Waters, S. Fahn +13 more
2015Neurology1 citations
Semantic Scholar
Next-generation biomarker analysis: A 6-min LC-MS/MS assay for α-mannosidosis oligosaccharide monitoring
Stephan T. Hold, Petra Oliva
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
Prospective newborn screening for MLD in Austria: Additional 12 months updated real-world outcomes
Petra Oliva, Maximilian Zeyda, Stephan T. Hold, Nina Hochmeister +7 more
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
Integrating α-mannosidosis into the differential diagnostic algorithm for suspected MPS: A 24-month update
Petra Oliva, Marie Däntl, Stephan T. Hold, D. Kasper
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots
L. Laugwitz, Pascal Martin, N. Janzen, Sebastian Hegert +25 more
2026Orphanet Journal of Rare Diseases0 citations Open access
Semantic Scholar
Breaking barriers in lysosomal disorder screening: A novel simultaneous LC-MS/MS approach for Tay-Sachs, Sandhoff, and GM1 gangliosidosis diseases
Petra Oliva, Stephan T. Hold, Markus Schwarz, D. Kasper
2026Molecular Genetics and Metabolism0 citations
Semantic Scholar
Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency
Petra Oliva, T. Mechtler, Jake Scott, M. Gasparic +5 more
2025Molecular Genetics and Metabolism0 citations
Semantic Scholar
Differential diagnosis for mucopolysaccharidoses (MPSs) and subtype prevalence in Europe and Middle East
Markus Schwarz, Petra Oliva, T. Mechtler, Sukirhini Balendran +3 more
2025Molecular Genetics and Metabolism0 citations Open access
Semantic Scholar
Importance of including α-mannosidosis in a combined testing protocol with MPS in patients suspected of a mucopolysaccharidosis
Petra Oliva, Marie Däntl, T. Mechtler, B. Streubel +1 more
2025Molecular Genetics and Metabolism0 citations
Semantic Scholar
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)
Petra Oliva, Marie Däntl, T. Mechtler, B. Streubel +1 more
2025Molecular Genetics and Metabolism0 citations
Semantic Scholar
Diagnostic approach for Fabry disease
Petra Oliva, T. Mechtler, S. Sansen, B. Streubel +1 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
High-risk population screening for the mucopolysaccharidoses (MPS)
Markus Schwarz, T. Mechtler, Sandra Liebmann-Reindl, Petra Oliva +2 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
The ratio of Niemann-Pick disease type A/B to cases of Gaucher disease varies by country
Petra Oliva, T. Mechtler, Markus Schwarz, Jake Scott +3 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Strategy for diagnosis of neuronal ceroid lipofuscinoses
Petra Oliva, T. Mechtler, B. Streubel, D. Kasper
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Results of a prospective high risk population study for the frequency of α-mannosidosis within MPS like phenotype patients in Europe and the Middle East
Markus Schwarz, T. Mechtler, Sandra Liebmann-Reindl, Petra Oliva +3 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Diagnostic strategy for suspected cases of Fabry disease
Petra Oliva, Sukirhini Balendran, S. Sansen, T. Mechtler +2 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation
Sukirhini Balendran, Petra Oliva, S. Sansen, T. Mechtler +2 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
High-risk population screening by differential diagnosis for mucopolysaccharidoses (MPSs)
Markus Schwarz, Petra Oliva, T. Mechtler, Sandra Liebmann-Reindl +3 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Differential diagnosis of Niemann-Pick disease type A/B in cases of suspected Gaucher disease
Petra Oliva, T. Mechtler, Markus Schwarz, Jake Scott +4 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarker
Petra Oliva, Markus Schwarz, T. Wiesinger, Jake Scott +6 more
20210 citations Open access
Semantic Scholar
Markers of
Katia Alileche, I. Arévalo-Vargas, I. Assiri, G. Cazzaniga +17 more
20210 citations
Semantic Scholar
Comparison of tripeptidyl peptidase 1 (CLN2) measurement by fluorometry and tandem mass spectrometry
Z. Lukács, P. Cobos, Petra Oliva, R. Santer +1 more
20200 citations
Semantic Scholar
Targeted-population screening for mucopolysaccharidoses: Results of the assessment of >9000 samples
Z. Lukács, P. Cobos, R. Santer, Petra Oliva +1 more
20200 citations
Semantic Scholar
Challenges for newborn screening and rare disease diagnostic initiatives in Europe
D. Kasper, Z. Lukács, B. Streubel, Petra Oliva +1 more
20200 citations
Semantic Scholar
The value of biochemical enzymatic testing for the rapid identification of early-onset Pompe disease in newborns and children
D. Kasper, Petra Oliva, Markus Schwarz, T. Wiesinger +3 more
20200 citations
Semantic Scholar
Lyso-sphingomyelin as biomarker for Niemann-Pick disease type A and B patients
T. Mechtler, Markus Schwarz, T. Wiesinger, Petra Oliva +2 more
20200 citations
Semantic Scholar
Differential diagnosis of Niemann-Pick disease types A and B in cases of suspected Gaucher disease
Petra Oliva, T. Mechtler, Markus Schwarz, Sukirhini Balendran +4 more
20200 citations
Semantic Scholar
Combined biochemical and targeted-next generation sequencing panel for differential diagnosis of inherited myopathies
D. Kasper, T. Mechtler, Petra Oliva, Markus Schwarz +3 more
20200 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

T. Mechtler×28
Invite
T. Mechtler — researcher profile on SciRah
B. Streubel×25
Invite
B. Streubel — researcher profile on SciRah
D. Kasper×24
Invite
D. Kasper — researcher profile on SciRah
Markus Schwarz×16
Invite
Markus Schwarz — researcher profile on SciRah

×10

Invite

Pavlina Wolf — researcher profile on SciRah

Invite

S. Sansen — researcher profile on SciRah

Invite

D. Kasper — researcher profile on SciRah

Invite

R. Alcalay — researcher profile on SciRah

Invite

J. Keutzer — researcher profile on SciRah

Invite

Z. Lukács — researcher profile on SciRah

Invite

Z. Gan-or — researcher profile on SciRah

Invite

O. Levy — researcher profile on SciRah