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TITLE: A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syndrome in Portugal  Full Text
AUTHORS: Nisa, Madalena Meira; Martins, Miguel Vieira; de Matos, Barbara Barroso; Monteiro, Joana Simoes; Duarte, Catarina Marques; Robalo, Brigida; Pereira, Carla; Sampaio, Lurdes;
PUBLISHED: 2022, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 36, ISSUE: 2
INDEXED IN: Scopus WOS
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TITLE: Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)  Full Text
AUTHORS: Elena J Tucker; Rocio Rius; Sylvie Jaillard; Katrina Bell; Phillipa J Lamont; Andre Travessa; Juliette Dupont; Lurdes Sampaio; Jerome Dulon; Sandrine Vuillaumier Barrot; Sandra Whalen; Arnaud Isapof; Tanya Stojkovic; Susana Quijano Roy; Gorjana Robevska; Jocelyn van den Bergen; Chloe Hanna; Andrea Simpson; Katie Ayers; David R Thorburn; John Christodoulou; Philippe Touraine; Andrew H Sinclair; ...More
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 10
INDEXED IN: Scopus WOS
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TITLE: Familial Turner syndrome: the importance of information
AUTHORS: Isabel Periquito; Catarina Carrusca; Joana Morgado; Brigida Robalo; Carla Pereira; Maria de Lurdes Sampaio;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism  Full Text
AUTHORS: Marta Loureiro; Filipa Reis; Brigida Robalo; Carla Pereira; Lurdes Sampaio;
PUBLISHED: 2015, SOURCE: PEDIATRIC REPORTS, VOLUME: 7, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas
AUTHORS: Juliette Dupont; Carla Pereira; Ana Medeira; Rui Duarte; Sian Ellard; Lurdes Sampaio;
PUBLISHED: 2012, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 25, ISSUE: 3-4
INDEXED IN: Scopus WOS CrossRef