Results 71 to 80 of about 2,135 (156)

Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes

Orphanet Journal of Rare Diseases
Background Acid Sphingomyelinase Deficiency (ASMD) type B is a rare lysosomal disorder caused by SMPD1 mutations. Due to its low prevalence and clinical heterogeneity, diagnosis is challenging, and detection is crucial for the initiation of enzyme ...
Thomas Villeneuve, Thibaut Jamme, Robin Schwob, Thierry Levade, Grégoire Prévot   +4 more
doaj   +1 more source

The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency

Genetics in Medicine Open
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate ...
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman   +8 more
doaj   +1 more source

Impact of Potential Symptoms and Risks Associated with Acid Sphingomyelinase Deficiency on Patients and Caregivers: A Best-Worst Scaling Study

Patient Preference and Adherence, 2023
Carol Mansfield,1 Lubomyra Nalysnyk,2 Dhaivat Joshi,2 Joshua Coulter,1 Ruth Pulikottil-Jacob3 1Health Preference Assessment, RTI Health Solutions, Research Triangle Park, North Carolina, USA; 2Health Economics and Value Assessment, Sanofi, Cambridge, MA,
Mansfield C, Nalysnyk L, Joshi D, Coulter J, Pulikottil-Jacob R   +4 more
doaj  

Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

Molecular Genetics and Metabolism Reports
Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in ...
Amber Van Baelen, Stijn Verhulst, François Eyskens   +2 more
doaj   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report

Frontiers in Pediatrics
BackgroundAcid sphingomyelinase deficiency (ASMD) type A/B, a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, presents with variable visceral and neurological manifestations.
Aelita Kamalova, Aelita Kamalova, Razilya Rakhmaeva, Razilya Rakhmaeva, Gulnara Sageeva, Rezeda Safiullina, Adelina Raimova, Elena Gaichik, Dalal Nasr, Ayman A. Gobarah, Ayman A. Gobarah, Ahmed Arafat, Ahmed Arafat   +12 more
doaj   +1 more source

Dynamic Gating Mechanism of the b0,+AT-Mediated Arg Transport: Insights from ASMD Simulations

bioRxiv
Heteromeric amino acid transporters (HATs) mediate essential amino acid flux across membranes, but the molecular dynamics of substrate translocation remain poorly defined for many family members.
Qinjie Tang, Xing Zhang, Xuhua Li, Jing Dong, Haojia Li, You-Shen Wu, Zhi-Wei Yang, Lei Li, Xinzhe Yu, Lei Zhang, Shengli Zhang   +10 more
semanticscholar   +1 more source

Effect of alternating canal and marginal groundwater irrigation on banana yield, water use efficiency, and soil salinity under furrow plantation

Agricultural Water Management
Banana is one of the most important cash crops in Sindh, Pakistan; however, its production is increasingly compromised due to declining freshwater availability.
Nazar Gul, Hafiz Abdul Salam, Muhammad Ashraf, Majid Taie Semiromi   +3 more
doaj   +1 more source

Unraveling atmospheric mercury dynamics at Mauna Loa through the isotopic analysis of total gaseous mercury

Ecotoxicology and Environmental Safety
Our investigation seeks to uncover the intricate nature of mercury dynamics in the free troposphere through analysis of the isotopic composition of total gaseous elemental mercury (TGM) at the high altitude Mauna Loa Observatory (MLO, 3397 m) in Hawaii ...
Akane Yamakawa, Winston Luke, Paul Kelley, Xinrong Ren, Michealene Iaukea-Lum   +4 more
doaj   +1 more source

Deficiência de Esfingomielinase Ácida (ASMD) – doença de Niemann-Pick tipo B Revisão de literatura e relato de caso do ambulatório de doenças intersticiais do Hospital Universitário de Brasília (HUB-UnB)

Brazilian Journal of Health Review
A deficiência de esfingomielinase ácida (ASMD) é uma doença lisossômica rara, autossômica recessiva e multissistêmica, que leva à redução ou ausência da atividade da esfingomielinase ácida e ao acúmulo intracelular de esfingomielina.
A. Bogo, M. P. Rodrigues, W. D. de Paula
semanticscholar   +1 more source

Favorable clinical response to olipudase alfa in a patient with two variants of uncertain significance in SMPD1: a case report

Egyptian Journal of Medical Human Genetics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann–Pick disease, is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the Sphingomyelin phosphodiesterase 1 (SMPD1) gene, leading to the deficient activity ...
Luz María Sánchez-Sánchez, Jorge Álvarez-Longoria, Beatriz De la Fuente-Cortez, Valentina Martínez-Montoya, Ekaterina Sánchez-Romero   +4 more
doaj   +1 more source