Results 51 to 60 of about 166,938 (112)

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience

Journal of Inherited Metabolic Disease, Volume 47, Issue 6, Page 1363-1370, November 2024.
Abstract Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme.
Rachel E. Hickey, Joshua Baker
wiley   +1 more source

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders

JIMD Reports, Volume 65, Issue 5, Page 330-340, September 2024.
Abstract The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross‐sectional data on visceral, hematological, and biochemical manifestations of untreated adult patients with chronic visceral ...
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   +8 more
wiley   +1 more source

A perfectly imperfect engine: Utilizing the digital twin paradigm in pulmonary hypertension

Pulmonary Circulation, Volume 14, Issue 2, April 2024.
Abstract Pulmonary hypertension (PH) is a severe medical condition with a number of treatment options, the majority of which are introduced without consideration of the underlying mechanisms driving it within an individual and thus a lack of tailored approach to treatment.
Melody Walker, Helen Moore, Ali Ataya, Ann Pham, Paul A. Corris, Reinhard Laubenbacher, Andrew J. Bryant   +6 more
wiley   +1 more source

No Recipe for Quantitative Systems Pharmacology Model Validation, but a Balancing Act Between Risk and Cost

Clinical Pharmacology &Therapeutics, Volume 115, Issue 1, Page 25-28, January 2024.
Vincent Lemaire, Chuanpu Hu, Piet H. van der Graaf, Steve Chang, Weirong Wang   +4 more
wiley   +1 more source

On the role of excipients in biopharmaceuticals manufacture: Modelling-guided formulation identifies the protective effect of arginine hydrochloride excipient on spray-dried Olipudase alfa recombinant protein

Biopharmaceuticals are labile biomolecules that must be safeguarded to ensure the safety, quality, and efficacy of the product. Batch freeze-drying is an established means of manufacturing solid biopharmaceuticals but alternative technologies such as ...
Ashutosh Sharma (18159358), Ambrose Hayden (19368392), DAMIEN THOMPSON (12348634), Dikshitkumar Khamar (1570087), Helen Hughes (527682), Pierre Cazade (14801314)   +5 more
core   +1 more source

Alfa-Cakes-Fabrik, Radebul-Dresden

ALFA-CAKES-FABRIK, RADEBUL-DRESDEN Alfa-Cakes-Fabrik, Radebul-Dresden ( -
Alfa-Cakes-Fabrik
core   +3 more sources

Olipudase alfa enzyme replacement therapy. One-year outcomes in an adult patient with acid sphingomyelinase deficiency type B [PDF]

Introduction: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive lysosomal storage disorder caused by variants in the SMPD1 gene, leading to a deficiency in the activity of sphingomyelinase (ASM) that catabolizes sphingomyelin (SPM ...
Campos, T., Silva, A., Chaves, P.C., Pintalhão, M., Castro, R., Bastos, J., Leão Teles, Elisa, Rodrigues, E., Macedo, Fatima, da Silva Gaspar, Paulo Jorge Miranda, Cardoso, M.   +10 more
core   +1 more source

Peginterferon alfa-2a alone, lamivudine alone, and the two in combination in patients with HBeAg-negative chronic hepatitis B

, 2004
BACKGROUND: Available treatments for hepatitis B e antigen (HBeAg)-negative chronic hepatitis B are associated with poor sustained responses. As a result, nucleoside and nucleotide analogues are typically continued indefinitely, a strategy ...
PEGINTERFERON ALFA A. HBEAG NEGATIVE CHRONIC HEPATITIS B. STUDY GROUP, MARCELLIN P, BONINO, FERRUCCIO, LAU GK   +3 more
core  

P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials

Genetics in Medicine Open, 2023
Melissa Wasserstein, Roberto Giugliani, Simon Jones, Robin Lachmann, Maurizio Scarpa, Monica Kumar, Nicole Armstrong, Mario Aguiar   +7 more
doaj   +1 more source

Noticiário

, 2001
Alfa, Revista
core   +8 more sources