Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) [PDF]
, 2023 BACKGROUND: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care.
Bolton, Shaun Christopher +21 more
core +1 more source
Reconstruction of the Cytokine Signaling in Lysosomal Storage Diseases by Literature Mining and Network Analysis [PDF]
, 2021 Lysosomal storage diseases (LSDs) are characterized by the abnormal accumulation of substrates in tissues due to the deficiency of lysosomal proteins.
Alan Ramponi +8 more
core +1 more source
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective [PDF]
, 2023 This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best clinical practice in terms of recognition, diagnosis and management of patients with acid ...
Ertugrul Kiykim +5 more
core +1 more source
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management [PDF]
, 2020 BACKGROUND: Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.
Alvarez-Sala Walther, L.A. +7 more
core +1 more source
QSPcc reduces bottlenecks in computational model simulations [PDF]
, 2021 Mathematical models have grown in size and complexity becoming often computationally intractable. In sensitivity analysis and optimization phases, critical for tuning, validation and qualification, these models may be run thousands of times.
Alessio Paris +10 more
core +1 more source
Journal of Biochemical and Clinical Genetics, 2023 Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed +6 more
doaj +1 more source
Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism
Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023 Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon +8 more
wiley +1 more source
Model-Informed Drug Development:Steps Toward Harmonized Guidance [PDF]
, 2023 Global alignment of expectations is required to achieve consistency in the planning, conduct, reporting, and regulatory review of modelinformed drug development (MIDD) applications. An International Council for Harmonization (ICH) MIDD general principles
Ahamadi, Malidi +23 more
core +1 more source
Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A [PDF]
, 2021 Niemann-Pick disease type A (NPD-A) is a lysosomal storage disorder characterized by neurodegeneration and early death. It is caused by loss-of-function mutations in the gene encoding for acid sphingomyelinase (ASM), which hydrolyzes sphingomyelin into ...
Bankiewicz, Krystof S. +15 more
core +5 more sources