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Publications by A. B. Burlina

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight Into the Clinical Phenotype

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2015English

Erratum To: Prediction of Outcome in Isolated Methylmalonic Acidurias: Combined Use of Clinical and Biochemical Parameters

Journal of Inherited Metabolic Disease
Genetics
2009English

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2012English

The Spectrum of Niemann-Pick Type C Disease in Greece

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2017English

Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725

Pediatric Research
Child HealthPediatricsPerinatology
1998English

Functional Analysis of Niemann-Pick Disease Type C Family Protein, NPC1a, in Drosophila Melanogaster

Development (Cambridge)
Developmental BiologyMolecular Biology
2019English

Niemann-Pick Type C Disease: Molecular Mechanisms and Potential Therapeutic Approaches

Journal of Neurochemistry
BiochemistryMolecular NeuroscienceCellular
2011English

Niemann-Pick Disease

Turkish Journal of Haematology
Hematology
2011English

Niemann-Pick Disease Type C: Cataplexy and Hypocretin in Cerebrospinal Fluid

Tohoku Journal of Experimental Medicine
BiochemistryMedicineGeneticsMolecular Biology
2006English

Niemann-Pick Disease, Type C1 (NPC1)

Science-Business eXchange
2008English

Genetic and Laboratory Diagnostic Approach in Niemann Pick Disease Type C

Journal of Neurology
Neurology
2014English

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