Alexandru Saveanu

Marseille, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 44 publications

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.

Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.

Journal: Hormone research in paediatrics

Published: February 09, 2026

Pituitary developmental gene defects and their contribution to growth hormone deficiency.

Pituitary developmental gene defects and their contribution to growth hormone deficiency.

Journal: Annales d'endocrinologie

Published: February 05, 2026

Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.

Journal: European journal of pediatrics

Published: September 10, 2025

Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity.

Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity.

Journal: European journal of endocrinology

Published: April 05, 2025

CSNK2B Mutation: A Rare Cause of IGHD.

CSNK2B Mutation: A Rare Cause of IGHD.

Journal: Clinical endocrinology

Published: September 11, 2024

Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.

Phenotype and genotype of 23 patients with hypopituitarism and pathogenic GLI2 variants.

Journal: European journal of endocrinology

Published: September 10, 2024

Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP).

Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP).

Journal: Annales d'endocrinologie

Published: March 07, 2024

Diagnosis and management of congenital hypopituitarism in children.

Diagnosis and management of congenital hypopituitarism in children.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: October 18, 2023

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 09, 2022

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.

Journal: Journal of neuroendocrinology

Published: December 06, 2022

Showing 1-12 of 44

Last Updated: 09/26/2026