Familial glucocorticoid deficiency: New genes and mechanisms. - Wikidata - awgldk - TriplyDB

Familial glucocorticoid deficiency: New genes and mechanisms.

Familial glucocorticoid deficiency: New genes and mechanisms.

http://www.wikidata.org/entity/Q38070933

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Insights from exome sequencing for endocrine disorders Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report.From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective.A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation.Adrenocortical growth and cancer.ACTH Receptor (MC2R) Specificity: What Do We Know About Underlying Molecular Mechanisms?Diagnosis and management of pediatric adrenal insufficiency.Early diagnosis in familial glucocorticoid deficiency.IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.An Energetic View of Stress: Focus on Mitochondria.Mitochondrial Nexus to Allostatic Load Biomarkers.

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P2860

Familial glucocorticoid deficiency: New genes and mechanisms.

http://www.wikidata.org/entity/Q38070933

description

article científic

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article scientifique

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articol științific

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articolo scientifico

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artigo científico

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artigo científico

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artikel ilmiah

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artikull shkencor

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artículo científico

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name

Familial glucocorticoid deficiency: New genes and mechanisms.

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type

label

Familial glucocorticoid deficiency: New genes and mechanisms.

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prefLabel

Familial glucocorticoid deficiency: New genes and mechanisms.

@en

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J.MCE.2012.12.010

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Molecular and Cellular Endocrinology

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Familial glucocorticoid deficiency: New genes and mechanisms.

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Adrian J L Clark

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Claire R Hughes

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Eirini Meimaridou

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J Paul Chapple

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Julia Kowalczyk

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Leonardo Guasti

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Li F Chan

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Louise A Metherell

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Peter J King

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195-200

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scholarly article

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10.1016/J.MCE.2012.12.010

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1-2

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371

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2012-12-29T00:00:00Z

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23279877

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