PMC Articles for MedGen (Select 1800807) - PMC

Links from MedGen

Items: 1 to 20 of 93

<< First< Prev

Page of 5

Next >Last >>

Select item 14740381.

Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease

Calogera M. Simonaro, Jae-Ho Park, Efrat Eliyahu, Nataly Shtraizent, Margaret M. McGovern, Edward H. Schuchman

Am J Hum Genet. 2006 May; 78(5): 865–870. Published online 2006 Mar 14. doi: 10.1086/503750

PMCID:: PMC1474038

Abstract Article PDF–1.1M

Select item 35669772.

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Huiwen Zhang, Yu Wang, Zhuwen Gong, Xiaoyan Li, Wenjuan Qiu, Lianshu Han, Jun Ye, Xuefan Gu

Orphanet J Rare Dis. 2013; 8: 15. Published online 2013 Jan 28. doi: 10.1186/1750-1172-8-15

PMCID:: PMC3566977

Abstract Article PDF–713K

Select item 69411013.

Acid Sphingomyelinase Deficiency Ameliorates Farber Disease

Nadine Beckmann, Katrin Anne Becker, Stephanie Kadow, Fabian Schumacher, Melanie Kramer, Claudine Kühn, Walter J. Schulz-Schaeffer, Michael J. Edwards, Burkhard Kleuser, Erich Gulbins, Alexander Carpinteiro

Int J Mol Sci. 2019 Dec; 20(24): 6253. Published online 2019 Dec 11. doi: 10.3390/ijms20246253

PMCID:: PMC6941101

Abstract Article PDF–4.5M

Select item 97491574.

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar

Orphanet J Rare Dis. 2022; 17: 437. Published online 2022 Dec 14. doi: 10.1186/s13023-022-02587-0

Correction in:: Orphanet J Rare Dis. 2023; 18: 55.

PMCID:: PMC9749157

Abstract Article PDF–2.1M

Select item 72494975.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Melissa Wasserstein, Carlo Dionisi-Vici, Roberto Giugliani, Wuh-Liang Hwu, Olivier Lidove, Zoltan Lukacs, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Margaret McGovern

Mol Genet Metab. Author manuscript; available in PMC 2020 May 26.

Published in final edited form as: Mol Genet Metab. 2019 Feb; 126(2): 98–105. Published online 2018 Nov 29. doi: 10.1016/j.ymgme.2018.11.014

PMCID:: PMC7249497

Abstract Article PDF–107K

Select item 74310136.

Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

Lucyna Opoka, Dorota Wyrostkiewicz, Piotr Radwan-Rohrenschef, Adriana Roży, Anna Tylki-Szymańska, Witold Tomkowski, Monika Szturmowicz

Am J Case Rep. 2020; 21: e923394-1–e923394-5. Published online 2020 Aug 6. doi: 10.12659/AJCR.923394

PMCID:: PMC7431013

Abstract Article PDF–1.1M

Select item 76453697.

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling

Adrián Bartoll, Ana Toledano‐Zaragoza, Josefina Casas, Manuel Guzmán, Edward H Schuchman, María Dolores Ledesma

EMBO Mol Med. 2020 Nov 6; 12(11): e11776. Published online 2020 Oct 5. doi: 10.15252/emmm.201911776

PMCID:: PMC7645369

Abstract Article PDF–3.4M

Select item 81119008.

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt

Orphanet J Rare Dis. 2021; 16: 212. Published online 2021 May 10. doi: 10.1186/s13023-021-01842-0

PMCID:: PMC8111900

Abstract Article PDF–1.5M

Select item 82743369.

Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P. Wasserstein

Mol Genet Metab Rep. 2021 Sep; 28: 100780. Published online 2021 Jul 7. doi: 10.1016/j.ymgmr.2021.100780

PMCID:: PMC8274336

Abstract Article PDF–552K

Select item 835484810.

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

George A. Diaz, Simon A. Jones, Maurizio Scarpa, Karl Eugen Mengel, Roberto Giugliani, Nathalie Guffon, Isabela Batsu, Patricia A. Fraser, Jing Li, Qi Zhang, Catherine Ortemann-Renon

Genet Med. 2021; 23(8): 1543–1550. Published online 2021 Apr 19. doi: 10.1038/s41436-021-01156-3

Correction in:: Genet Med. 2022 Oct; 24(10): 2209.

PMCID:: PMC8354848

Abstract Article PDF–617K

Select item 850277111.

Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

Annalisa Sechi, Alessandro Vit, Claudio Avellini, Andrea Dardis, Andrea Pellegrin, Maurizio Scarpa, Bruno Bembi

Mol Genet Metab Rep. 2021 Dec; 29: 100808. Published online 2021 Oct 5. doi: 10.1016/j.ymgmr.2021.100808

PMCID:: PMC8502771

Abstract Article PDF–3.9M

Select item 854612012.

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob

Sci Rep. 2021; 11: 20972. Published online 2021 Oct 25. doi: 10.1038/s41598-021-99921-6

PMCID:: PMC8546120

Abstract Article PDF–1.0M

Select item 857418113.

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

Eline C. B. Eskes, Martijn J. C. van der Lienden, Joris J. T. H. Roelofs, Liffert Vogt, Johannes M. F. G. Aerts, Jan Aten, Carla E. M. Hollak

JIMD Rep. 2021 Nov; 62(1): 15–21. Published online 2021 Jul 26. doi: 10.1002/jmd2.12242

PMCID:: PMC8574181

Abstract Article PDF–2.1M

Select item 858499714.

Prevalence of Cancer in Acid Sphingomyelinase Deficiency

Wladimir Mauhin, Thierry Levade, Marie T. Vanier, Roseline Froissart, Olivier Lidove

J Clin Med. 2021 Nov; 10(21): 5029. Published online 2021 Oct 28. doi: 10.3390/jcm10215029

PMCID:: PMC8584997

Abstract Article PDF–566K

Select item 865762315.

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective

Carolina Pinto, Diana Sousa, Vladimir Ghilas, Andrea Dardis, Maurizio Scarpa, Maria Fatima Macedo

Int J Mol Sci. 2021 Dec; 22(23): 12870. Published online 2021 Nov 28. doi: 10.3390/ijms222312870

PMCID:: PMC8657623

Abstract Article PDF–1018K

Select item 1158660216.

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

Abstract Article PDF–1.1M

Select item 908804617.

Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

Neng-Li Wang, Jing Lin, Lian Chen, Yi Lu, Xin-Bao Xie, Kuerbanjiang Abuduxikuer, Jian-She Wang

BMC Gastroenterol. 2022; 22: 227. Published online 2022 May 9. doi: 10.1186/s12876-022-02310-0

PMCID:: PMC9088046

Abstract Article PDF–1.2M

Select item 942146918.

Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

Ulrike Blümlein, Eugen Mengel, Yasmina Amraoui

Mol Genet Metab Rep. 2022 Sep; 32: 100900. Published online 2022 Jul 19. doi: 10.1016/j.ymgmr.2022.100900

PMCID:: PMC9421469

Abstract Article PDF–305K

Select item 964183819.

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani

Orphanet J Rare Dis. 2022; 17: 407. Published online 2022 Nov 8. doi: 10.1186/s13023-022-02560-x

PMCID:: PMC9641838

Abstract Article PDF–1.2M

Select item 887756420.

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Wladimir Mauhin, Raphaël Borie, Florence Dalbies, Claire Douillard, Nathalie Guffon, Christian Lavigne, Olivier Lidove, Anaïs Brassier

J Clin Med. 2022 Feb; 11(4): 920. Published online 2022 Feb 10. doi: 10.3390/jcm11040920

PMCID:: PMC8877564

Abstract Article PDF–819K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 93

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity