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Growth Hormone Deficiency
Study highlights the impact of genetic short stature on children’s quality of life and family well-being
IgG4 alone outperforms IgG4/IgG ratio in diagnosing IgG4-related disease
AI-enhanced MRI shows promise in differentiating parkinsonian syndromes
Study links post-surgical hypoparathyroidism to increased arterial stiffness
New single-day imaging protocol proposed for Parkinson’s biomarker assessment
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IgG4-RD

The immunoglobulin G4/immunoglobulin G (IgG4/IgG) ratio and IgG4 alone are highly accurate in diagnosing IgG4-related disease (IgG4-RD), but IgG4 alone shows slightly better sensitivity and overall diagnostic performance, suggesting it may be the...

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Homozygous Familial Hypercholesterolemia (HoFH)
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Polls & Quizzes

Hypoparathyroidism: Long-Term Complications
Jan 31, 2025

Podcasts

Dr. Gloria Wu Podcast: Eliminating The Negative
May 30, 2024

Quizzes

Hypoparathyroidism: Long-Term Complications
Jan 31, 2025

Videos

New FDA approval for rare condition CTX offers better support for patients
Mar 10, 2025
Smith-Lemli-Opitz-Syndrome

Whole blood can serve as a reliable alternative to plasma for diagnosing Smith-Lemli-Opitz syndrome (SLOS) by measuring 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) levels, according to a study. Using gas chromatography-mass spectrometry (GC-MS), the...

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Inherited Retinal Diseases

While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown...

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