Results 21 to 30 of about 5,921 (149)

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

Orphanet Journal of Rare Diseases
Thomas Villeneuve, Thibaut Jamme, Robin Schwob, Thierry Levade, Grégoire Prévot   +4 more
doaj   +2 more sources

TAVI in Patient Suffering from Niemann–Pick Disease (Acid Sphingomyelinase Deficiency) with Concomitant Situs Inversus and Dextrocardia

Cardiology and Therapy, 2023
Acid sphingomyelinase deficiency (ASMD)—also known as Niemann–Pick (NP) disease—is a rare, autosomal recessive disorder which is characterized by deficiency of the lysosomal enzyme acid sphingomyelinase (ASM), resulting in excessive storage of lipids in ...
Daniele De Feo, Anna D’Anzi, Vincenzo Pestrichella, Pietro Scicchitano, Carlo Lafranceschina, Vito Caragnano, Fabio Tiecco, Antonella Scialpi, Giuliana Laronga, Marco Matteo Ciccone, Sabino Iliceto   +10 more
doaj   +1 more source

Acid sphingomyelinase deficiency in Beckwith-Wiedemann syndrome [PDF]

Pathology & Oncology Research, 2000
We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial ...
Réthy, Lajos Attila, Kálmánchey, Rozália, Klujber V, Koós, Rozália, Fekete, György   +4 more
openaire   +2 more sources

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

JIMD Reports, 2021
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and ...
Eline C. B. Eskes, Martijn J. C. van derLienden, Joris J. T. H. Roelofs, Liffert Vogt, Johannes M. F. G. Aerts, Jan Aten, Carla E. M. Hollak   +6 more
doaj   +1 more source

The role of the host—Neutrophil biology

Periodontology 2000, EarlyView., 2023
Abstract Neutrophilic polymorphonuclear leukocytes (neutrophils) are myeloid cells packed with lysosomal granules (hence also called granulocytes) that contain a formidable antimicrobial arsenal. They are terminally differentiated cells that play a critical role in acute and chronic inflammation, as well as in the resolution of inflammation and wound ...
Iain L. C. Chapple, Josefine Hirschfeld, Alpdogan Kantarci, Asaf Wilensky, Lior Shapira   +4 more
wiley   +1 more source

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency [PDF]

Genetics in Medicine, 2017
Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence
McGovern, Margaret M., Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Eugen Mengel, Karl, Mistry, Pramod K., Schuchman, Edward H., Wasserstein, Melissa P.   +9 more
openaire   +3 more sources

Reproductive Pathology and Sperm Physiology in Acid Sphingomyelinase-Deficient Mice [PDF]

The American Journal of Pathology, 2002
Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from the deficient activity of acid sphingomyelinase (ASM). In this manuscript we report the pathobiology of male gonadal tissue and sperm in a knockout mouse model of NPD and demonstrate the importance of ASM for normal sperm maturation and function.
Avigdor, Butler, Xingxuan, He, Ronald E, Gordon, Hai-Shan, Wu, Shimon, Gatt, Edward H, Schuchman   +5 more
openaire   +2 more sources

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease

Nature Communications, 2016
Genetic alterations in the protein acid sphingomyelinase (ASM) lead to ASM deficiency and have been associated with Niemann–Pick disease. Here, the authors report the crystal structures of ASM alone and bound to its product, and discuss the catalytic ...
Yan-Feng Zhou, Matthew C. Metcalf, Scott C. Garman, Tim Edmunds, Huawei Qiu, Ronnie R. Wei   +5 more
doaj   +1 more source

Niemann-Pick Disease: Seven Questions about it

Вопросы современной педиатрии, 2023
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes.
Nato D. Vashakmadze, Nataliya V. Zhurkova   +1 more
doaj   +1 more source

Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination. [PDF]

PLoS ONE, 2017
The cuprizone animal model, also known as the toxic demyelination model, is a well-reproducible model of demyelination- and remyelination in mice, and has been useful in studying important aspect of human demyelinating diseases, including multiple ...
Marwan Chami, Ramona Halmer, Laura Schnoeder, Katrin Anne Becker, Carola Meier, Klaus Fassbender, Erich Gulbins, Silke Walter   +7 more
doaj   +1 more source