Similar Papers

Paper Title
Journal
Date
Author
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
C.E.M Hollak ... B.J.H.M Poorthuis
Molecular Genetics and Metabolism | VOL. 107
C.E.M Hollak, et. al.C.E.M Hollak ... B.J.H.M Poorthuis
30 Jun 2012
Xenpozyme: the first spellbound therapy
Muhammad Musab Nafees Uddin ... Muhammad Saqlain Mustafa
International Journal of Surgery: Global Health | VOL. 6
Muhammad Musab Nafees Uddin, et. al.Muhammad Musab Nafees Uddin ... Muhammad Saqlain Mustafa
01 Mar 2023
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease
Int. Journal of Clinical Pharmacology and Therapeutics | VOL. Suppl 47 1
23 Dec 2009
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan
Yu-Wen Pan ... Yen-Yin Chou
Molecular Genetics and Metabolism Reports | VOL. 34
Yu-Wen Pan, et. al.Yu-Wen Pan ... Yen-Yin Chou
31 Jan 2023
View more papers

More From: Molecular Genetics and Metabolism

Paper Title
Journal
Date
Author
Evaluating lipocalin-2 as a biomarker for lysosomal acid lipase deficiency
Irene Serrano Gonzalo ... Pilar Giraldo
Molecular Genetics and Metabolism | VOL. 144
Irene Serrano Gonzalo, et. al.Irene Serrano Gonzalo ... Pilar Giraldo
01 Feb 2025
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal diseases
Isidro Arevalo-Vargas ... Johannes Aerts
Molecular Genetics and Metabolism | VOL. 144
Isidro Arevalo-Vargas, et. al.Isidro Arevalo-Vargas ... Johannes Aerts
01 Feb 2025
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection
Gheona Altarescu ... Shoshana Revel-Vilk
Molecular Genetics and Metabolism | VOL. 144
Gheona Altarescu, et. al.Gheona Altarescu ... Shoshana Revel-Vilk
01 Feb 2025
Serial brain MRI volumetrics and tractography of atypical CLN2 patients receiving ICV cerliponase alfa treatment
Audrey Kao ... Raymond Y Wang
Molecular Genetics and Metabolism | VOL. 144
Audrey Kao, et. al.Audrey Kao ... Raymond Y Wang
01 Feb 2025
View more papers

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.