Results 31 to 40 of about 1,310 (142)

Enfermedad de Pompe: una lección por aprender

Archivos De Cardiologia De Mexico
Claudia A. Pavón-Flores, Leonardo Rivera-Rodríguez, Juan E. Calderón-Colmenero   +2 more
exaly   +3 more sources

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

Developmental Medicine &Child Neurology, Volume 60, Issue 6, Page 579-586, June 2018., 2018
Aim To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. Method Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years.
Berendine J Ebbink, Esther Poelman, Femke K Aarsen, Iris Plug, Luc Régal, Carsten Muentjes, Nadine A M E van der Beek, Maarten H Lequin, Ans T van der Ploeg, Johanna M P van den Hout   +9 more
wiley   +1 more source

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease

Neurología (English Edition)
Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme.
C. Domínguez-González, M.Á. Barba Romero, C. Caballero Eraso, J. de las Heras, E. Farrero Muñoz, Ó. García-Campos, M. González, J.M. Grau, A. Hernández-Voth, R. Juntas Morales, J.C. León Hernández, M. Ley Martos, D. López-Padilla, N. Muelas, A. Nascimento, M. Olivé, C. Paradas, J. Pardo Fernández, S.I. Pascual, I. Pitarch, J. Sancho, J. Díaz-Manera   +21 more
doaj   +1 more source

Doctor, ¿tiene cinco minutos? - Sección a Cargo de Miriam Tonietti y Bettina Viola

Revista del Hospital de Niños, 2023
* In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease * Personality Disorders * Obesity and Overweight Among Children With Medical Complexity * Choosing Wisely internationally – helpful recommendations for antimicrobial stewardship!
Bettina Viola, Miriam Tonietti
doaj   +2 more sources

EHA2024 Hybrid Congress [PDF]

Hemasphere
HemaSphere, Volume 8, Issue S1, June 2024.
europepmc   +2 more sources

Clinical guidelines for late-onset Pompe disease [PDF]

, 2012
English version available at www.neurologia.comHasta 2006, la enfermedad de Pompe o glucogenosis tipo II era una enfermedad incurable y con tratamiento meramente paliativo.
Barba-Romero, Miguel A., Barrot, Emilia, Bautista-Lorite, Juan, Gutiérrez-Rivas, Eduardo, Illa, Isabel, Jiménez, Luis M., Ley-Martos, Myriam, López de Munain, Adolfo, Pardo, Julio, Pascual-Pascual, S. I., Pérez-López, Jordi, Solera, Jesús, Vílchez-Padilla, Juan J.   +12 more
core   +1 more source

Enfermedad de Pompe [PDF]

Revista Colombiana de Cardiología, 2022
Ángel A. García-Peña, Fernando Suárez-Obando, Julián Palomino-Doza   +2 more
openaire   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 285-295, February 2026.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

Long‐Term Correction of Murine Glycogen Storage Disease Type III by AAV‐Mediated Gene Therapy Using an Immunotolerizing Dual Promoter to Express Bacterial Pullulanase

Advances in Cell and Gene Therapy, Volume 2025, Issue 1, 2025.
Background: We recently reported an innovative gene therapy approach for GSD III using a recombinant adeno‐associated virus serotype 9 vector (AAV9‐Dual‐Pull) expressing a bacterial debranching enzyme (pullulanase) driven by a tandem dual promoter that consists of an immunotolerizing liver‐specific promoter (LSP) and the ubiquitous CMV enhance/chicken ...
Kuo-An Liao, Jeong-A Lim, Su Jin Choi, Haiqing Yi, Baodong Sun, Dao Pan   +5 more
wiley   +1 more source