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The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review

Biomolecules (Basel, Switzerland), 2024-02, Vol.14 (2), p.211

2024

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Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Cell biochemistry and function, 2024-06, Vol.42 (4), p.e4028-n/a

2024

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Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.317-326

2024

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Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Journal of lipid research, 2014-02, Vol.55 (2), p.338-343

2014

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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Human mutation, 2021-10, Vol.42 (10), p.1336-1350

2021

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Genetics in medicine, 2016-01, Vol.18 (1), p.41-48

2016

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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Human mutation, 2016-02, Vol.37 (2), p.139-147

2016

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SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Hereditas, 2023-03, Vol.160 (1), p.11-17, Article 11

2023

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Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease

Molecular genetics and metabolism, 2023-05, Vol.139 (1), p.107563-107563, Article 107563

2023

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Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency

American journal of respiratory cell and molecular biology, 2021-05, Vol.64 (5), p.629-640

2021

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Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect

Traffic (Copenhagen, Denmark), 2010-05, Vol.11 (5), p.601-615

2010

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Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

Biochimica et biophysica acta. Molecular basis of disease, 2020-10, Vol.1866 (10), p.165875-165875, Article 165875

2020

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pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.654-663

Schuchman, E. H

2007

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Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis

European journal of internal medicine, 2023-02, Vol.108, p.81-84

2023

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Types A and B Niemann-Pick disease

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.27-33

2017

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Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Orphanet journal of rare diseases, 2017-02, Vol.12 (1), p.41-41, Article 41

2017

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Emerging roles for lipids in non-apoptotic cell death

Cell death and differentiation, 2016-07, Vol.23 (7), p.1099-1109

2016

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Types A and B Niemann-Pick Disease

Pediatric endocrinology reviews : PER, 2016-06, Vol.13 Suppl 1, p.674

2016

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Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.526-533

2012

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Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)

Gene, 2020-07, Vol.747, p.144683-144683, Article 144683

2020

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Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

The American journal of case reports, 2022-11, Vol.23, p.e937220-e937220

2022

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Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

Human mutation, 2009-07, Vol.30 (7), p.1117-1122

2009

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Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis

Cold Spring Harbor molecular case studies, 2017-09, Vol.3 (5), p.a001966

2017

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NPC1 plays a role in the trafficking of specific cargo to melanosomes

The Journal of biological chemistry, 2023-08, Vol.299 (8), p.105024-105024, Article 105024

2023

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Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1⁻/⁻ mouse

Proceedings of the National Academy of Sciences - PNAS, 2009-02, Vol.106 (7), p.2377-2382

2009

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The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1

Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease

Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency

Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease

Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis

Types A and B Niemann-Pick disease

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Emerging roles for lipids in non-apoptotic cell death

Types A and B Niemann-Pick Disease

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis

NPC1 plays a role in the trafficking of specific cargo to melanosomes

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1⁻/⁻ mouse

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