Results 1 to 10 of about 1,516 (160)

A suspicion index tool to aid the diagnosis and treatment of ASMD [PDF]

Orphanet Journal of Rare Diseases
Background The diagnosis of acid sphingomyelinase deficiency (ASMD, Niemann Pick Type A, A/B, B) is frequently delayed by years, because of its heterogeneous and often unspecific clinical features.
Anna-Maria Wiesinger, Georg Zimmermann, Wanda Lauth, Nicole Muschol, Dorothea Möslinger, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Daniela Karall, Roberto Giugliani, Eugen Mengel, Elmar Aigner, Daniel Weghuber, Florian B. Lagler   +12 more
doaj   +4 more sources

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series

Respiratory Medicine Case Reports
Background: Lysosomal storage diseases (LSD) are inherited diseases caused by mutations affecting genes encoding the function of lysosomal enzymes.
Jordi Costa i Colomer, Marta Garcia-Moyano, Luis Maiz, Santiago Perez-Tarazona, Marta Ruiz de Valbuena, Leticia Ceberio, Patricia Correcher, Natalia Juliá-Palacios, Montse Morales, Gema Pérez-Yagüe, Jesús Villarrubia, Raquel Pérez-Rojo   +11 more
exaly   +7 more sources

Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center [PDF]

Molecular Genetics and Metabolism Reports
Objectives: Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Rabab Farhan, Mays Al-Tai, Ikhlas Ali Ahmed, Adel Kareem, Saja Baheer, Bassam Musa Sadik, Matheel Mohamed Jafar, Marwa Sabah Alothman   +7 more
doaj   +2 more sources

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan [PDF]

Molecular Genetics & Genomic Medicine
Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal disorder with diverse clinical presentations and often delayed diagnosis. This study investigates the clinical features, genetic variants, and treatment outcomes in Taiwanese patients.
Hsu‐Heng Lin, Hui‐An Chen, Shyh‐Jer Lin, Rai‐Hseng Hsu, Ni‐Chung Lee, Wuh‐Liang Hwu, Yen‐Hsuan Ni, Yen‐Yin Chou, Pao‐Chin Chiu, Steven Shinn‐Forng Peng, Yin‐Hsiu Chien   +10 more
doaj   +2 more sources

Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup [PDF]

Molecular Genetics and Metabolism Reports
Objectives: To present key features of pediatric acid sphingomyelinase deficiency (ASMD) and assess the clinical and safety outcomes of enzyme replacement therapy with olipudase alfa.
Nehal Abdelaziz Arafa, Aml Mahfouz, Shimaa Anwar, Iman Marzouk   +3 more
doaj   +2 more sources

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency—results from an international survey study [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by SMPD1 mutations, resulting in sphingomyelin accumulation and diverse manifestations.
Adel Sabet Morsy, Solomon Mbua, Toni Mathieson, Justin Hopkin, Shaun Bolton   +4 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.
Laurence Pollissard
exaly   +3 more sources

Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study [PDF]

Orphanet Journal of Rare Diseases
Background Acid sphingomyelinase deficiency (ASMD) A and B, historically known as Niemann-Pick (NP) types A (NPA) and B (NPB), are life-threatening and rare inherited lysosomal storage disorders, caused by a deficiency in the acid sphingomyelinase enzyme
Mahdieh Khoshakhlagh, Maede Hasanpour, Mehrdad Iranshahi, Javad Asili, Aida Tasbandi, Tannaz Jamialahmadi, Amirhossein Sahebkar, Milad Iranshahy   +7 more
doaj   +2 more sources

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

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