Enzyme Replacement Therapy

"Enzyme Replacement Therapy" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Therapeutic replacement or supplementation of defective or missing enzymes to alleviate the effects of enzyme deficiency (e.g., GLUCOSYLCERAMIDASE replacement for GAUCHER DISEASE).

Descriptor ID	D056947
MeSH Number(s)	E02.319.353.500
Concept/Terms	Enzyme Replacement Therapy Enzyme Replacement Therapy Enzyme Replacement Therapies Replacement Therapies, Enzyme Replacement Therapy, Enzyme Therapies, Enzyme Replacement Therapy, Enzyme Replacement

Below are MeSH descriptors whose meaning is more general than "Enzyme Replacement Therapy".

Analytical, Diagnostic and Therapeutic Techniques and Equipment [E]
Therapeutics [E02]
Drug Therapy [E02.319]
Enzyme Therapy [E02.319.353]
Enzyme Replacement Therapy [E02.319.353.500]

Below are MeSH descriptors whose meaning is related to "Enzyme Replacement Therapy".

Below are MeSH descriptors whose meaning is more specific than "Enzyme Replacement Therapy".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Enzyme Replacement Therapy" by people in this website by year, and whether "Enzyme Replacement Therapy" was a major or minor topic of these publications.

Bar chart showing 10 publications over 6 distinct years, with a maximum of 3 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2011	0	1	1
2016	0	2	2
2017	0	1	1
2018	0	2	2
2019	1	2	3
2022	0	1	1

Below are the most recent publications written about "Enzyme Replacement Therapy" by people in Profiles.

Roger AL, El Haddad L, Huston ML, Kehoe S, Le D, Khan M, Scarrow E, Gonzalez T, Benkert A, Asokan A, ElMallah MK. GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse. Respir Physiol Neurobiol. 2025 07; 335:104433.

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Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Ros? AM, Comeau AM, Tanksley S, Powell CM, Kemper AR. Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States. Genet Med. 2023 02; 25(2):100330.

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Ginns EI, Ryan E, Sidransky E. Gaucher disease in the COVID-19 pandemic environment: The good, the bad and the unknown. Mol Genet Metab. 2021 04; 132(4):213-214.

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McCall AL, Dhindsa JS, Bailey AM, Pucci LA, Strickland LM, ElMallah MK. Glycogen accumulation in smooth muscle of a Pompe disease mouse model. J Smooth Muscle Res. 2021; 57(0):8-18.

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Khan AA, Case LE, Herbert M, DeArmey S, Jones H, Crisp K, Zimmerman K, ElMallah MK, Young SP, Kishnani PS. Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Genet Med. 2020 05; 22(5):898-907.

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ElMallah MK, Desai AK, Nading EB, DeArmey S, Kravitz RM, Kishnani PS. Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. Pediatr Pulmonol. 2020 03; 55(3):674-681.

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Lewis G, Morrill AM, Conway-Allen SL, Kim B. Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2. J Child Neurol. 2020 04; 35(5):348-353.

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Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019 06 13; 14(1):137.

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Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019 05 29; 14(1):118.

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Min M, Patel B, Han S, Bocelli L, Kheder J, Vaze A, Wassef W. Exocrine Pancreatic Insufficiency and Malnutrition in Chronic Pancreatitis: Identification, Treatment, and Consequences. Pancreas. 2018 09; 47(8):1015-1018.

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