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Paskal Cullufi

Observed names: Cullufi P, Cullufi, Paskal, P Cullufi, P. Cullufi, Paskal CULLUFI, Paskal CULLUFI²
ORCID: 0000-0001-5678-9926
Observed ORCID: 0000-0001-5678-9926
OpenAlex ID: A5066998237
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study
2024 · Ana Westenberger, Volha Skrahina, et al. · Brain · 109
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Liver failure in children with hepatitis A
1997 · D Debray, P Cullufi, et al. · Hepatology · 99
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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
2020 · Claudia Cozma, Paskal Cullufi, et al. · International Journal of Molecular Sciences · 41
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A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS
2022 · Mirela Tabaku, Sonila Tomori, et al. · Molecular Genetics and Metabolism Reports · 9
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Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
2019 · P. Cullufi, M. Tabaku, et al. · Molecular Genetics and Metabolism Reports · 9
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Pattern and Frequency of Short Stature in Albanian Children.
2016 · A Gjikopulli, L Grimci, et al. · PubMed Central · 8
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Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD
2022 · L. Sila, V. Velmishi, et al. · Balkan Journal of Medical Genetics · 6
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Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl
2024 · Virtut Velmishi, Dritan Alushani, et al. · Case Reports in Medicine · 5
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Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa
2023 · Virtut Velmishi, Erjon Troja, et al. · Journal of Osteoporosis · 5
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Genetic characterization of the Albanian Gaucher disease patient population
2020 · Paskal Cullufi, Mirela Tabaku, et al. · JIMD Reports · 5
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Treatment and follow up of children with chronic hepatitis C in Albania
2012 · Virtut Velmishi, Ermira Dervishi, et al. · Virology Journal · 5
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Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience
2024 · Paskal Cullufi, Sonila Tomori, et al. · Frontiers in Pediatrics · 4
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Wilson's disease in Albania.
1995 · E J Adhami, P Cullufi · PubMed · 4
Constipation as an Atypical Sign of ARC Syndrome - Case Report.
2016 · V Velmishi, E Dervishi, et al. · PubMed Central · 2
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Final Height in Children with Idiopathic Growth Hormone Deficiency treated with Growth Hormone: Albanian experience.
2015 · A Gjikopulli, L Grimci, et al. · PubMed Central · 2
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Further characterization of the BRSK2-associated neurodevelopmental disorder
2026 · Palak Singhal, Tzung-Chien Hsieh, et al. · European Journal of Human Genetics · 1
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Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype
2025 · Paskal Cullufi, Virtut Velmishi, et al. · American Journal of Case Reports · 1
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Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene
2025 · Mirela Tabaku, Sonila Tomori, et al. · Gene · 1
Case Series: Neurofibromatosis Type 1 in 8 Pediatric Patients; Genotype and Phenotype Analysis
2023 · Afërdita Tako Kumaraku, Kristi Aleksi, et al. · International Journal of Medical Case Reports · 1
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Epidemiology of Celiac Disease in Children in Albania and Psychological Implications of the Disease
2017 · Ermira Dervishi, Afërdita Tako, et al. · American Journal of Psychiatry and Neuroscience · 1
Further characterization of the BRSK2-associated neurodevelopmental disorder.
2026 · Singhal, Palak, Hsieh, Tzung-Chien, et al. · Open Access CRIS of the University of Bern
Real-world comparison of genome- and exome-based diagnostic workflows in a pediatric Albanian rare disease cohort
2026 · P. Cullufi, M. Tabaku, et al. · BMC Medical Genomics
Transition From Interferon‐Based Therapy to Direct‐Acting Antivirals in Albanian Children With Chronic Hepatitis C: A 17‐Year Real‐World Experience
2026 · Virtut Velmishi, Ermira Dervishi, et al. · Advances in Virology
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Subacute Sclerosing Panencephalitis (SSPE) Following Measles Infection: A Case Report and Review of the Literature
2025 · Aferdita TAKO (KUMARAKU), Blerina SARACI QIRINXHI, et al. · Medicus
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Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania
2025 · Paskal Cullufi, Virtut Velmishi, et al. · Journal of Clinical Medicine
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Works count: 40
Citation count: 318
H-index: 6
I10-index: 3
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