المؤلفون: Natera-de Benito, Daniel, Sola, Abel, Sousa, Paulo Rego, Boronat, Susana, Expósito-Escudero, Jessica, Carrera-García, Laura, Ortez, Carlos, Jou, Cristina, Muchart, Jordi, Rebollo, Monica, Armstrong, Judith, Colomer, Jaume, Garcia-Cazorla, Àngels, Hoenicka, Janet, Palau, Francesc, Nascimento, Andres

مصطلحات موضوعية: ATP7A, ATP7B, copper replacement therapy, distal hereditary motor neuropathy, occipital horn syndrome, Portugal, Região Autónoma da Madeira

العلاقة: www.elsevier.com/locate/pnu; Pediatric Neurology 119 (2021) 40e44; http://hdl.handle.net/10400.26/36508Test

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2021.03.005Test
http://hdl.handle.net/10400.26/36508Test

المؤلفون: Andrés Nascimento, Angels García-Cazorla, Abel Sola, Jaume Colomer, Daniel Natera-de Benito, Carlos Ortez, Jordi Muchart, Susana Boronat, Judith Armstrong, Paulo Rego Sousa, Francesc Palau, Cristina Jou, Janet Hoenicka, Mónica Rebollo, Jessica Expósito-Escudero, Laura Carrera-García

المصدر: PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ATP7A, Occipital horn syndrome, medicine.disease_cause, Cutis Laxa, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Internal medicine, Distal hereditary motor neuropathy, ATP7B, Medicine, Humans, Expressivity (genetics), Child, Mutation, Portugal, Região Autónoma da Madeira, business.industry, Copper toxicity, Copper replacement therapy, medicine.disease, Phenotype, Pedigree, ATP7A Gene, Endocrinology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Menkes disease, Ehlers-Danlos Syndrome, Neurology (clinical), business, 030217 neurology & neurosurgery, Copper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1612c7f928bafcaf901dd15005785Test
https://pubmed.ncbi.nlm.nih.gov/33894639Test