Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Autor: Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)

Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificit

Externí odkaz: https://doaj.org/article/dca030d850824609987aa2702f2ac2b3

Nocturnal surveys of lined seahorses reveal increased densities and seasonal recruitment patterns

Autor: Heather D. Mason, Emily Rose, Jessica Elson Gonzalez, Duncan A. O'Brien

Publikováno v: Mason, H D, Rose, E, Gonzalez, J E & O'brien, D A 2023, ' Nocturnal surveys of lined seahorses reveal increased densities and seasonal recruitment patterns ', Ecology and Evolution, vol. 13, no. 1, e9573, pp. 1-16 . https://doi.org/10.1002/ece3.9573

Although the nighttime ecology of organisms remains understudied, nocturnal surveys play an integral part in assessing fish assemblages and the selective forces shaping them. Eleuthera (Bahamas) contains an unusual population of lined seahorses (Hipp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d992bc27bc910d14987bf8ffed1d58fb
https://doi.org/10.1002/ece3.9573

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Autor: Ruth Williams, Norberto Guelbert, Maurizio Scarpa, Samuel F. Berkovic, Raymond Y. Wang, Noreen Murphy, Nicola Specchio, Simon Dulz, Paul Gissen, Joffre E Olaya, Emily de los Reyes, Jonathan W. Mink, Ingrid E. Scheffer, Alessandro Simonati, Sara E. Mole, Angela Schulz, Miriam Nickel, Eben Badoe, Ina von Löbbecke, Heather L Mason, Charles Marques Lourenço

Publikováno v: Orphanet journal of rare diseases, vol 16, iss 1
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Orphanet Journal of Rare Diseases

Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d908a653f3465b251f513b2d8297451f
https://hdl.handle.net/11577/3486195

Childhood Obesity: A Transtheoretical Case Management Approach

Autor: Heather N. Mason, Robert Topp, Paul Caudill, Valerie McLaughlin Crabtree

Publikováno v: Journal of Pediatric Nursing. 23:337-344

Childhood obesity is an increasing health problem because of its strong associations with chronic health problems in children and adults. Obesity during childhood commonly persists into adulthood and is resistant to interventions that involve only re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19b5c72e276057460027050091c0698
https://doi.org/10.1016/j.pedn.2008.01.080

Does growing Canadian Western Hard Red Spring wheat under organic management alter its breadmaking quality?

Autor: B. Frick, D. Niziol, John T. O'Donovan, Alireza Navabi, Heather E. Mason, D. Spaner

Publikováno v: Renewable Agriculture and Food Systems. 22:157-167

Canadian Western Hard Red Spring (CWRS) wheat is recognized as premium quality wheat, ideal for breadmaking due to its superior milling qualities, baking characteristics and protein content. Organic wheat production is becoming more prevalent in Cana

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a7a97f738f88e70cd63d016b212f332
https://doi.org/10.1017/s1742170507001688