Identification and Functional Assessment of Novel and Known Insulin Receptor Mutations in Five Patients with Syndromes of Severe Insulin Resistance-Reference-Cited by-同舟云学术

Identification and Functional Assessment of Novel and Known Insulin Receptor Mutations in Five Patients with Syndromes of Severe Insulin Resistance

Published:2003-09 Issue:9 Volume:88 Page:4251-4257
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Maassen J. Antonie,Tobias Edward S.,Kayserilli Hülya,Tukel Turgut,Yuksel-Apak Memnune,d’Haens Esther,Kleijer Wim J.,Féry Francoise,van der Zon Gerard C. M.

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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1. ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents;Pediatric Diabetes;2022-12

2. Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene;Frontiers in Endocrinology;2022-05-12

3. Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome;Frontiers in Endocrinology;2021-04-29

4. Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report;Journal of Clinical Research in Pediatric Endocrinology;2021-02-26

5. Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion;Hormone Research in Paediatrics;2020