المؤلفون: Alejandro Zevallos-Morales, Alexis Murillo, Milagros M. Dueñas-Roque, Ana Prötzel, Luis Venegas-Tresierra, Verónica Ángeles-Villalba, Miguel Guevara-Cruz, Ada Chávez-Gil, Ricardo Fujita, Maria L. Guevara-Fujita

المصدر: Genetics and Molecular Biology, Vol 43, Iss 1 (2020)

مصطلحات موضوعية: ENG, Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100109&tlng=en; http://www.scielo.br/pdf/gmb/v43n1/1415-4757-GMB-43-01-20190126.pdf; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/5a645b9352d549dbb2382a5638912a93

المؤلفون: Milagros Amorín, Andrea Carlin, Ana Prötzel

المصدر: Arch Argent Pediatr, 110(5), e103-e106, (2015-08-17)

مصطلحات موضوعية: mucopolysaccharidosis

Relation: https://doi.org/; https://doi.org/10.5281/zenodo.28107; oai:zenodo.org:28107; https://hdl.handle.net/10757/313689

الاتاحة: https://doi.org/10.5281/zenodo.28107
https://hdl.handle.net/10757/313689

المؤلفون: Ana Prötzel Pinedo

المصدر: Revista Peruana de Ginecología y Obstetricia. 54:166-169

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d7b6602401e6948a9c5d68d035343c64
https://doi.org/10.31403/rpgo.v54i1107

المؤلفون: Ana Prötzel, Milagros Amorín, Andrea Carlina

المصدر: Archivos Argentinos de Pediatria. 110:103-106

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::08d48e6de2760e70280e917166b41dea
https://doi.org/10.5546/aap.2012.e103

المؤلفون: Milagros, Amorín, Andrea, Carlin, Ana, Prötzel

المصدر: Universidad Peruana de Ciencias Aplicadas (UPC)
Repositorio Académico-UPC
UPC-Institucional
Universidad Peruana de Ciencias Aplicadas
instacron:UPC

مصطلحات موضوعية: Male, MPS I, congenital, hereditary, and neonatal diseases and abnormalities, Mucopolysaccharidosis I, nutritional and metabolic diseases, mucopolysaccharidosis, Síndrome de Hurler, Trastorno genético, Phenotype, Humans, Enzyme Replacement Therapy, Child, skin and connective tissue diseases, Terapia de reemplazo enzimático, Mucopolisacaridosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2dcb9bde4613546b8438861ea729314

المؤلفون: Repositorio Academico UPC, Milagros Amorín, Andrea Carlin, Ana Prötzel

مصطلحات الفهرس: Dataset

المؤلفون: María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas‐Roque, Ana Protzel, Carlos Castañeda, Hugo Abarca, Luis Celis, Jorge La Serna‐Infantes, Ricardo Fujita

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

مصطلحات موضوعية: Becker muscular dystrophy, Duchenne muscular dystrophy, molecular diagnosis, multiple ligation probe amplification, targeted Next Generation Sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/eb9689d258c04b929b47d0d45d2093fd

المؤلفون: Camilo E. Torres-Romucho, Victor G. Uriondo-Oré, Alberto J. Ramirez-Palomino, Hugo Arroyo-Hernández, Maria Loo-Valverde, Ana Protzel-Pinedo, Milagros Dueñas-Roque

المصدر: Revista Peruana de Medicina Experimental y Salud Pública, Vol 36, Iss 3, Pp 433-41 (2019)

مصطلحات موضوعية: cardiopatías, congénito, mortalidad, supervivencia, mortalidad infantil, perú, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/4166; https://doaj.org/toc/1726-4634; https://doaj.org/toc/1726-4642

URL الوصول: https://doaj.org/article/1a8f628b052e48888895decf951d3776

المؤلفون: Ruth Aquino, Ana Protzel, Juan Rivera, Hugo Abarca, Milagros Dueñas, Cecilia Nestarez, Nestor Purizaga, Benoit Diringer

المصدر: Revista Peruana de Medicina Experimental y Salud Pública, Vol 34, Iss 1, Pp 62-9 (2017)

مصطلحات موضوعية: fibrosis quística, mutación, diagnóstico, perú, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/2767; https://doaj.org/toc/1726-4634; https://doaj.org/toc/1726-4642

URL الوصول: https://doaj.org/article/e93f140c2bdd4ddab5d1d13901acf246

المؤلفون: Tatiana Pineda, Sulie Marie, Janneth Gonzalez, Ana L. García, Amparo Acosta, Manuel Morales, Luz N. Correa, Ricardo Vivas, Xiomara Escobar, Ana Protzel, Maria Barba, Sandra Ospina, Clara Corredor, Sandra Mansilla, Harvy M. Velasco

المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 468-473 (2014)

مصطلحات موضوعية: Mucopolysaccharidosis type I, α-l-Iduronidase, Hurler, Scheie, Mutational analysis, Bioinformatic model, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426914000664; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/be3efdcc3b9e42f9af228bd595ffc9f8