Genetic Disorders

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Podcasts

Adrenal Disorders

Phyllis Speiser, MD, on the Endocrine Society’s Guideline for CAH Due to Steroid 21-Hydroxylase Deficiency

01/22/2020

Dr Speiser answers our questions about the Endocrine Society’s 2018 clinical practice guideline for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.

01/22/2020

Research Summaries

Research Summary

Large Case Series Identifies Key Clinical, Pathological Characteristics of Patients With Oxalate Nephropathy

05/24/2024

Anthony Calabro, MA

Oxalate nephropathy is a commonly underrecognized cause of chronic kidney disease and end-stage kidney disease with multiple etiologies, including primary hyperoxaluria, enteric hyperoxaluria, or ingestion...

05/24/2024

RESEARCH SUMMARY

Study Compares Tau Spread in People With Down Syndrome, Alzheimer Disease

05/22/2024

Anthony Calabro, MA

A recent cross-sectional, observational study compared the tau spread in people with Down syndrome and autosomal-dominant Alzheimer disease to identify tau-related differences between the two groups.

05/22/2024

research summary

Association Between Gene Mutations, Enzyme Activity in Acute Intermittent Porphyria

05/20/2024

Leigh Precopio

Researchers examined the epidemiology of hydroxymethylbilane synthase (HMBS) gene defects and activity levels among patients with acute intermittent porphyria to better understand the role of HMBS activity...

05/20/2024

FDA Alert