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Luisa De Sanctis | doi.page

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Luisa De Sanctis

Ospedale Regina Margherita(IT)

Publications by Year

Research Areas

Genetic Syndromes and Imprinting, Diabetes Management and Research, Diabetes and associated disorders, Metabolism and Genetic Disorders, Thyroid Disorders and Treatments

Most-Cited Works

→ Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology(2020)433 cited
→ Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT(1999)332 cited
→ Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement(2018)329 cited
→ Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers(2002)278 cited
→ SOX2 anophthalmia syndrome(2005)226 cited
→ Has COVID-19 Delayed the Diagnosis and Worsened the Presentation of Type 1 Diabetes in Children?(2020)222 cited

→ From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network(2016)

168 cited

→ Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients(2010)148 cited

→ Accuracy of Fine Needle Aspiration Biopsy of Thyroid Nodules in Detecting Malignancy in Childhood: Comparison with Conventional Clinical, Laboratory, and Imaging Approaches(2001)144 cited

→ Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.(1995)112 cited