Results 41 to 50 of about 5,921 (149)

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience. [PDF]

J Inherit Metab Dis, 2023
AbstractAcid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme.
Hickey RE, Baker J.
europepmc   +3 more sources

Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency

Cells
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disorder caused by mutations in the SMPD1 gene, resulting in sphingomyelin accumulation.
Maksim Sysoev, Dmitri Solovyov, Aleksandr Shestopalov, Sergey Kutsev   +3 more
doaj   +1 more source

Niemann-Pick type A disease with new mutation: a case report

Journal of Medical Case Reports, 2022
Background Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ...
Fatemeh Aghamahdi, Matineh Nirouei, Shahram Savad   +2 more
doaj   +1 more source

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

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, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein   +3 more
doaj   +1 more source

The Antidiabetic Potential of Alpha‐Mangostin: A Review of Preclinical and Clinical Evidence

AgriFood: Journal of Agricultural Products for Food, EarlyView.
Alpha‐mangostin is a compound from the pericarp of Garcinia mangostana. The antidiabetic effects of alpha‐mangostin include enhancing insulin secretion, improving glucose uptake through GLUT receptor upregulation, reducing oxidative stress and inflammation, promoting wound healing, reducing HbA1C, reducing HOMA‐IR index, and decreased mRNA expressions ...
Oliver Dean John, Nur Damia Iwani Zulkiflee, Siti Raihanah Shafie, Ramlah George, Melonney Patrick   +4 more
wiley   +1 more source

Purification of Advanced Therapeutics by Flow‐Through Pseudo‐Affinity Chromatography: Bi‐Specific mABs, Fc Fusion Proteins, and Adeno‐Associated Viruses

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Modern biopharmaceutical manufacturing requires purification platforms capable of processing structurally and functionally diverse products while addressing the challenge of removing persistent and high‐risk host cell proteins (HCPs).
Wenning Chu, Eduardo Barbieri, Arianna Minzoni, Shriarjun Shastry, Jacob P. LeBarre, Qingbo Shu, Taufika Williams, Xuanwen Li, Divya Chandra, Xuankuo Xu, Jerome Bill, David Roush, Joseph Taris, Patrick Gilbert, Andre Kiesewetter, Oliver Rammo, Michael Schulte, Christopher Major, Trina Mouchahoir, Steven Cramer, Cristiana Boi, Ruben G. Carbonell, Abraham Lenhoff, Stefano Menegatti   +23 more
wiley   +1 more source

Features of liver damage in Niemann — Pick disease type A, A/B and B (deficiency of acidic sphingomyelinase)

Лечащий Врач
Background. Acid sphingomyelinase deficiency (Niemann – Pick disease) leads to the intracellular accumulation of sphingomyelin within the mononuclear phagocyte system, including liver, spleen, lungs and bone marrow.
Goar B. Movsisyan, Tatyana A. Bokova
doaj   +1 more source

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

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, Jing Lin, Lian Chen, Yi Lu, Xin-Bao Xie, Kuerbanjiang Abuduxikuer, Jian-She Wang   +6 more
doaj   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Emollient Formulations and Skin Barrier Practices in the Context of Eczema and Food Allergy Prevention

Allergy, EarlyView.
ABSTRACT The skin is far from a passive shield; it functions as a dynamic “living barrier” whose structural and immunological integrity is paramount in preventing atopic dermatitis (AD) and the subsequent progression of the atopic march toward food allergy (FA).
Klaudia Ryczaj, Donald Y. M. Leung, Carina Venter, Barbara Sozańska, Helen A. Brough   +4 more
wiley   +1 more source