The urine as a diagnostic key for a homozygous EGFR mutation

Autor: Santos,Mafalda Casinhas, Almendra,Margarida, Bota,Sofia, Ramos,Helena, Francisco,Telma

Publikováno v: Portuguese Journal of Nephrology & Hypertension v.36 n.1 2022

Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______616::afb4bfb8963c4d4e041aaf7e8b5a088b
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692022000100015

Nephrolithiasis in a portuguese pediatric population

Autor: Andrade,Joana V, Bota,Sofia, Francisco,Telma, Santos,Raquel, Neto,Gisela, Abranches,Margarida

Publikováno v: Portuguese Journal of Nephrology & Hypertension, Volume: 32, Issue: 3, Pages: 258-267, Published: SEP 2018
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Nephrology & Hypertension v.32 n.3 2018

Introduction and Aims: Nephrolithiasis incidence in children has increased considerably. It is associated with substantial morbidity, recurrence and increased adulthood cardiovascular risk and chronic kidney disease. A thorough investigation is essen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c00bc38b7ca325b01cb11660a1ccdfb
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-01692018000300005&lng=en&tlng=en

Severe Israeli spotted fever with multiorgan failure in a child

Autor: Bota, Sofia, de Sousa, Rita, Santos, Margarida, Varandas, Luís, Gouveia, Catarina F.

Publikováno v: In Ticks and Tick-borne Diseases July 2016 7(5):663-664

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Unusual presentation in cow's milk protein allergy.

Autor: Carvalho AA; Department of Pediatrics, Hospital Dona Estefânia, Lisboa, Portugal anacarvalho.fcm@gmail.com., Faustino J; Department of Pediatrics, Hospital Dona Estefânia, Lisboa, Portugal., Bota S; Pediatric Gastroenterology Unit, Hospital Dona Estefania, Lisboa, Portugal., Ferreira ST; Department of Pediatrics, Hospital Dona Estefânia, Lisboa, Portugal.

Publikováno v: BMJ case reports [BMJ Case Rep] 2021 Jul 05; Vol. 14 (7). Date of Electronic Publication: 2021 Jul 05.