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[HTML][HTML] Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout, E Buratti… - NPJ Genomic …, 2023 - nature.com
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …
被引用次数：7 相关文章

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout, E Buratti… - 2023 - repositorio.udd.cl
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout… - NPJ genomic …, 2023 - pubmed.ncbi.nlm.nih.gov
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by
the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function …
[PDF] researchgate.net

[PDF][PDF] Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout, E Buratti… - researchgate.net
Lysosomal storage diseases (LSDs) comprise a family of over 70 monogenic disorders.
Most LSDs have an autosomal recessive pattern of inheritance. They are caused by …

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.

M Las Heras, B Szenfeld, RA Ballout… - NPJ Genomic …, 2023 - search.ebscohost.com
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout, E Buratti… - 2023 - investigadores.udd.cl
Abstract< jats: title> Abstract</jats: title>< jats: p> Niemann-Pick type C (NPC) disease is a
lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal …

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout… - NPJ Genomic …, 2023 - search.proquest.com
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …
[HTML] nih.gov

[HTML][HTML] Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout… - NPJ Genomic …, 2023 - ncbi.nlm.nih.gov
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.

M Las Heras, B Szenfeld, RA Ballout, E Buratti… - NPJ Genomic …, 2023 - europepmc.org
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD)
characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to …
[PDF] udd.cl

[PDF][PDF] Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

M Las Heras, B Szenfeld, RA Ballout, E Buratti… - repositorio.udd.cl
Lysosomal storage diseases (LSDs) comprise a family of over 70 monogenic disorders.
Most LSDs have an autosomal recessive pattern of inheritance. They are caused by …