Associated Papers
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.
El-Mezayen M et al.
Molecular and Cellular Pediatrics, 2025
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2024
Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.
Lipiński P et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2024
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Arslan N et al.
Frontiers in Pediatrics, 2023
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.
Blümlein U et al.
Molecular Genetics and Metabolism Reports, 2022
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Wasserstein M et al.
Molecular Genetics and Metabolism, 2019
Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools.
Gelb MH
International Journal of Neonatal Screening, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
Piraud M et al.
Journal of Inherited Metabolic Disease, 2018
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
Wang N et al.
Human Mutation, 2017
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
McGovern MM et al.
Orphanet Journal of Rare Diseases, 2017
Types A and B Niemann-Pick Disease.
Schuchman EH et al.
Pediatric Endocrinology Reviews : Per, 2016
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.
Chuang WL et al.
Molecular Genetics and Metabolism Reports, 2015
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry.
Ghomashchi F et al.
Clinical Chemistry, 2015
Types A and B Niemann-Pick disease.
Schuchman EH et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Newborn screening for lysosomal storage diseases.
Gelb MH et al.
Clinical Chemistry, 2015
Morbidity and mortality in type B Niemann-Pick disease.
McGovern MM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2013
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.
Tóth B et al.
Jimd Reports, 2012
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
Schuchman EH
Journal of Inherited Metabolic Disease, 2007
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
Wasserstein MP et al.
The Journal of Pediatrics, 2006
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Pavlů-Pereira H et al.
Journal of Inherited Metabolic Disease, 2005
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis MG et al.
Human Mutation, 2004
[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients].
Elleder M et al.
Casopis Lekaru Ceskych, 2001
Types A and B Niemann-Pick disease.
Schuchman EH et al.
Molecular Genetics and Metabolism, 0