Hada C Macher

Publication Activity (10 Years)

Years Active: 2021-2021
Publications (10 Years): 3

Top Topics

Ejection Fraction

Patient Reported

Top Venues

Orphanet journal of rare diseases

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Paula Hernández-Arévalo, José D Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M Guerrero, Hada C Macher
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants. Orphanet journal of rare diseases 16 (1) (2021)
Javier Padillo-Ruiz, Gonzalo Suarez, Sheila Pereira, Francisco José Calero-Castro, Jose Tinoco, Luis Marin, Carmen Bernal-Bellido, Carmen Cepeda-Franco, José María Álamo-Martínez, Francisco Almoguera, Hada C Macher, Paula Villanueva, Francisco José García-Fernandez, Inmaculada Gallego, Manuel Romero, Miguel Ángel Gómez-Bravo, Valeria Denninghoff, María José Serrano
Circulating Tumor Cells Enumeration from the Portal Vein for Risk Stratification in Early Pancreatic Cancer Patients. Cancers 13 (24) (2021)
Rocío Delarosa-Rodríguez, José D Santotoribio, Hernández-Arévalo Paula, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M Guerrero, Hada C Macher
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing. Clinical genetics 99 (6) (2021)