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Publications by Peter G. Pentchev
Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates With a Classic Juvenile Phenotype
American Journal of Human Genetics
Genetics
Intracellular Trafficking of Cholesterol Monitored With a Cyclodextrin
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Related publications
Niemann-Pick Disease, Type C1 (NPC1)
Science-Business eXchange
The Prognostic Value of Niemann-Pick C1-Like Protein 1 and Niemann-Pick Disease Type C2 in Hepatocellular Carcinoma
Journal of Cancer
Oncology
Niemann-Pick Disease
Turkish Journal of Haematology
Hematology
Parkinsonism Syndrome in Heterozygotes for Niemann–Pick C1
Journal of the Neurological Sciences
Neurology
Cessation of Rapid Late Endosomal Tubulovesicular Trafficking in Niemann-Pick Type C1 Disease
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725
Pediatric Research
Child Health
Pediatrics
Perinatology
The Role of the Niemann-Pick Disease, Type C1 Protein in Adipocyte Insulin Action
PLoS ONE
Multidisciplinary
Subclinical Course of Adult Visceral Niemann–Pick Type C1 Disease. A Rare or Underdiagnosed Disorder?
Journal of Inherited Metabolic Disease
Genetics
Characterization of Hydroxypropyl-Beta-Cyclodextrins Used in the Treatment of Niemann-Pick Disease Type C1
PLoS ONE
Multidisciplinary