Visualitza per autor "Clemente Leon, Maria"
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A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report
Yeste Fernandez, Diego; aguilar-riera, cristina; Canestrino, Gennaro; Fernández Álvarez, Paula; Clemente Leon, Maria; Camats Tarruella, Núria (Frontiers Media, 2022-06-28) -
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
Maharaj, Avinaash; Kwong, Ruth; Williams, Jack; Smith, Christopher; Storr, Helen; Krone, Ruth; Clemente Leon, Maria (Bioscientifica, 2022-07-25) -
Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry
Lawrence, Neil; Bacila, Irina; Dawson, Jeremy; Bryce, Jillian; Ali, Salma R.; van den Akker, Erica; Clemente Leon, Maria (Wiley, 2022-11) -
Increased Presentation of Diabetic Ketoacidosis and Changes in Age and Month of Type 1 Diabetes at Onset during the COVID-19 Pandemic in Spain
Leiva-Gea, I; Antúnez Fernández, Cristina; Cardona-Hernandez, Roque; Ferrer-Lozano, Marta; Bahíllo-Curieses, Pilar; Arroyo Diez, Francisco Javier; Clemente Leon, Maria (MDPI, 2022-07-26) -
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report
Baz Redón, Noelia; Soler Colomer, Laura; Fernández Cancio, Mónica; Benito-Sanz, Sara; Garrido-Pontnou, Marta; Moline Marimon, Teresa; Clemente Leon, Maria; Camats Tarruella, Nuria; Yeste Fernandez, Diego (Frontiers Media, 2022-10-11)