Results 11 to 20 of about 3,491 (198)

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

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   +2 more sources

Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study

Molecular Genetics and Metabolism Reports
Background: Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease type A, A/B, and B, is a rare lysosomal storage pathology with multisystemic clinical manifestations.
Ruth Pulikottil-Jacob, Sumudu Dehipawala, Brittany Smith, Amod Athavale, Gaelle Gusto, Aastha Chandak, Artak Khachatryan, Tamar Banon, Marie Fournier, Sophie Guillonneau, Laurence Pollissard, Maria Veronica Munoz-Rojas   +11 more
exaly   +3 more sources

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Orphanet Journal of Rare Diseases, 2017
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B).
Margaret M McGovern, Olivier Lidove
exaly   +4 more sources

The heterogeneous treatment effects of statins on dementia: a target trial emulation with causal machine learning using integrated genetic and real-world data. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Given the complexity of dementia, the inconsistent evidence on statins and dementia highlights the need for robust methods to assess heterogeneous treatment effects (HTEs). METHODS We emulated a target trial using UK Biobank comparing statin initiators and non‐initiators aged ≥55 years.
Lai Y, Her QL, Zhang Y, Xu H, Kucharska-Newton A, Ji D, Wu G, Garden G, Stürmer T, Wang T, Xu Y.   +10 more
europepmc   +2 more sources

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

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   +2 more sources

Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and potentially fatal lysosomal storage disease. This two-part international study aimed to understand physician, patient, and caregivers' experiences during the ASMD diagnostic journey ...
Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar   +6 more
exaly   +3 more sources

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature [PDF]

Molecular and Cellular Pediatrics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations.
Mohamed El-mezayen, Abdelrahman M. Tawfik, Abdalla M. Hadhoud, Virginia M. Gerges, Mohamed H. Afify   +4 more
doaj   +2 more sources

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study [PDF]

Molecular Genetics and Metabolism Reports
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multisystem complications including neurodegeneration, hepatosplenomegaly, interstitial lung disease (ILD), bone marrow disease, and growth failure.
Drew B. Sinha, William L. Simpson, Andrew Ting, Louise Bier, Mary Freeman, Lauren Mackenzie Mason, George A. Diaz, Jaya Ganesh   +7 more
doaj   +2 more sources

Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt [PDF]

Molecular and Cellular Pediatrics
Background Thrombocytopenia is the most common hematologic manifestation of acid sphingomyelinase deficiency (ASMD). The introduction of enzyme replacement therapy (ERT) represents significant progress in the treatment landscape of this disorder.
Mervat A. M. Youssef, Esraa Hefzy Shaker, Nahed A M Saleh   +2 more
doaj   +2 more sources

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy [PDF]

Diseases
Introduction: The differential diagnosis of splenomegaly is a complex process that encompasses a wide variety of diseases. Moreover, it is not always standardized and lacks a definitive consensus on which tests should be performed and in what order ...
Marta Morado Arias, Jesús Villarrubia Espinosa, Isidro Vitoria Miñana, Enrique Calderón Sandubete, Víctor Quintero, Miguel Ángel Torralba-Cabeza   +5 more
doaj   +2 more sources