Results 21 to 30 of about 3,491 (198)
Molecular Genetics and Metabolism Reports, 2021 Introduction: A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B).
Margo Sheck Breilyn +3 more
doaj +1 more source
case report of ASMD Niemann pick disease
International journal of health sciences, 2022 Niemann Pick Disease is a rare disorder of lysosomal storage of the lipid sphingomyelin and foam cell infiltration of tissues presenting with varying degrees of severity. metabolic abnormalities of two types responsible for causing NPD. acid sphingomyelinase deficiency is the first metabolic abnormality causing NPD type A and B and and second is
V S Hamsa +3 more
openaire +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
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
Scientific Reports, 2021 Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski +7 more
doaj +1 more source
Cross-media Storytelling Strategy Utilizing N-Screen Service: Focusing on ASMD
The Journal of the Korea Contents Association, 2014 Donghee Shin, Hee-Kyung Kim
exaly +3 more sources
BMC Gastroenterology, 2022 Background Patients with acid sphingomyelinase deficiency (ASMD) may be referred to a hepatologist for liver manifestations. This study summarized the liver manifestations of patients with ASMD in the early disease course.
Neng-Li Wang +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types.
Francyne Kubaski +27 more
doaj +1 more source
High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results [PDF]
International Journal of Molecular SciencesAmber Van Baelen, Stijn L Verhulst
exaly +2 more sources
Orphanet Journal of Rare Diseases, 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.
Tarekegn Geberhiwot +21 more
doaj +1 more source
Concurrent Computing with Shared Replicated Memory [PDF]
, 2019 The behavioural theory of concurrent systems states that any concurrent system can be captured by a behaviourally equivalent concurrent Abstract State Machine (cASM).
A Blass +16 more
core +2 more sources