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Items: 1 to 20 of 99

1.
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals
Pramod K. Mistry, David Cassiman, Simon A. Jones, Robin Lachmann, Elena Lukina, Carlos E. Prada, Melissa P. Wasserstein, Beth L. Thurberg, Meredith C. Foster, Reema M. Patel, Lisa H. Underhill, M. Judith Peterschmitt
Hepatol Commun. 2025 Jan; 9(1): e0621. Published online 2025 Jan 7. doi: 10.1097/HC9.0000000000000621
PMCID:
PMC11717527
ArticlePDF–919K
2.
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Leonardo Salviati, Alessandro P. Burlina, Alberto B. Burlina
Int J Neonatal Screen. 2024 Dec; 10(4): 79. Published online 2024 Dec 4. doi: 10.3390/ijns10040079
PMCID:
PMC11679512
ArticlePDF–479K
3.
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria
Eline C. B. Eskes, Laura van Dussen, Marion M. M. G. Brands, Frédéric M. Vaz, Johannes M. F. G. Aerts, André B. P. van Kuilenburg, Barbara Sjouke, Carla E. M. Hollak
J Inherit Metab Dis. 2025 Jan; 48(1): e12789. Published online 2024 Aug 23. doi: 10.1002/jimd.12789
PMCID:
PMC11670446
ArticlePDF–3.1M
4.
Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency
Alexander J Hull, Magda L Atilano, Jenny Hallqvist, Wendy Heywood, Kerri J Kinghorn
Hum Mol Genet. 2024 Dec 15; 33(24): 2111–2122. Published online 2024 Oct 15. doi: 10.1093/hmg/ddae143
PMCID:
PMC11630749
ArticlePDF–1.3M
5.
The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman
Genet Med Open. 2024; 2: 101888. Published online 2024 Aug 23. doi: 10.1016/j.gimo.2024.101888
PMCID:
PMC11613795
ArticlePDF–2.6M
6.
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience
Rachel E. Hickey, Joshua Baker
J Inherit Metab Dis. 2024 Nov; 47(6): 1363–1370. Published online 2024 Jul 11. doi: 10.1002/jimd.12780
PMCID:
PMC11586602
ArticlePDF–1.1M
7.
Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders
Eline C. B. Eskes, Laura van Dussen, Johannes M. F. G. Aerts, Martijn J. C. van der Lienden, Mario Maas, Erik M. Akkerman, André B. P. van Kuilenburg, Barbara Sjouke, Carla E. M. Hollak
JIMD Rep. 2024 Sep; 65(5): 330–340. Published online 2024 Jul 4. doi: 10.1002/jmd2.12420
PMCID:
PMC11558470
ArticlePDF–2.9M
8.
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report
Amber Van Baelen, Stijn Verhulst, François Eyskens
Mol Genet Metab Rep. 2024 Dec; 41: 101144. Published online 2024 Sep 28. doi: 10.1016/j.ymgmr.2024.101144
PMCID:
PMC11465196
ArticlePDF–348K
9.
Assessment of health state utilities associated with adult and pediatric acid sphingomyelinase deficiency (ASMD)
Louis S. Matza, Katie D. Stewart, Marie Fournier, Donna Rowen, Robin Lachmann, Maurizio Scarpa, Eugen Mengel, Travis Obermeyer, Evren Ayik, Fernando Laredo, Ruth Pulikottil-Jacob
Eur J Health Econ. 2024; 25(8): 1437–1448. Published online 2024 Feb 27. doi: 10.1007/s10198-023-01667-7
PMCID:
PMC11442559
ArticlePDF–832K
10.
Adenotonsillar pathology in mucopolysaccharidoses – lysosomal storage predominates in paracortical CD63+ cells
Lenka Murgasova, Helena Hulkova, Veronika Baresova, Michal Jurovcik, Jan Stritesky, Katarina Jurickova, Martin Magner, Jakub Sikora
Virchows Arch. 2024; 484(1): 135–140. Published online 2023 Oct 3. doi: 10.1007/s00428-023-03662-y
Correction in:
Virchows Arch. 2024 Aug 23
PMCID:
PMC11330409
ArticlePDF–1.3M
11.
Acid sphingomyelinase deficiency in France: a retrospective survival study
Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group
Orphanet J Rare Dis. 2024; 19: 289. Published online 2024 Aug 5. doi: 10.1186/s13023-024-03234-6
PMCID:
PMC11301966
ArticlePDF–1.1M
12.
Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency
Laura Fiori, Veronica Maria Tagi, Chiara Montanari, Mirko Gambino, Veronica Carlevatti, Carmela Zizzo, Enza D'Auria, Dario Dilillo, Elvira Verduci, Gianvincenzo Zuccotti
Mol Genet Metab Rep. 2024 Sep; 40: 101120. Published online 2024 Jul 17. doi: 10.1016/j.ymgmr.2024.101120
PMCID:
PMC11286986
ArticlePDF–1.5M
13.
The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
Patryk Lipiński, Anna Tylki-Szymańska
Diagnostics (Basel) 2024 Jun; 14(12): 1299. Published online 2024 Jun 19. doi: 10.3390/diagnostics14121299
PMCID:
PMC11202662
ArticlePDF–276K
14.
Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management
Chiara Montanari, Veronica Maria Tagi, Enza D’Auria, Vincenzo Guaia, Anna Di Gallo, Michele Ghezzi, Elvira Verduci, Laura Fiori, Gianvincenzo Zuccotti
Children (Basel) 2024 Jun; 11(6): 668. Published online 2024 May 30. doi: 10.3390/children11060668
PMCID:
PMC11201433
ArticlePDF–971K
15.
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population
Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa
Hum Genome Var. 2024; 11: 24. Published online 2024 Jun 12. doi: 10.1038/s41439-024-00282-z
PMCID:
PMC11169237
ArticlePDF–427K
16.
A Rare Case of Niemann-Pick Disease Type-A
Faiza Gul, Sapna Begum, Palwasha Rasool, Safdar Shah, Muhammad Waqar
Cureus. 2024 Apr; 16(4): e59427. Published online 2024 Apr 30. doi: 10.7759/cureus.59427
PMCID:
PMC11140282
ArticlePDF–1.0M
17.
Newborn Screening for 6 Lysosomal Storage Disorders in China
Siyu Chang, Xia Zhan, Yuchao Liu, Huanlei Song, Zizhen Gong, Lianshu Han, Gustavo H. B. Maegawa, Xuefan Gu, Huiwen Zhang
JAMA Netw Open. 2024 May; 7(5): e2410754. Published online 2024 May 13. doi: 10.1001/jamanetworkopen.2024.10754
Correction in:
JAMA Netw Open. 2024 May; 7(5): e2419382.
PMCID:
PMC11091758
Article
18.
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob
Orphanet J Rare Dis. 2024; 19: 161. Published online 2024 Apr 13. doi: 10.1186/s13023-024-03174-1
PMCID:
PMC11015682
ArticlePDF–1.5M
19.
Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child
Adel M Al Shahrani, Walaa Asiri, Saad Ali M Alqarni, Lujaine M Al Murayeh
Cureus. 2024 Mar; 16(3): e55883. Published online 2024 Mar 10. doi: 10.7759/cureus.55883
PMCID:
PMC11002711
ArticlePDF–351K
20.
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, Marcomaria Zora, Giovanni Caocci, Daniela Diomede, Gaetano Giuffrida, Laura Fiori, Chiara Montanari, Annamaria Sapuppo, Anna Rita Scortechini, Nicola Vitturi, Giovanni Duro, Carmela Zizzo
J Clin Med. 2024 Mar; 13(5): 1487. Published online 2024 Mar 5. doi: 10.3390/jcm13051487
PMCID:
PMC10932152
ArticlePDF–2.2M

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