Patients With AATD at Higher Risk of Sleep Apnea Than Healthy Individuals
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Boston Dermatologist Says the Most Severe Form of Psoriasis Can Be a ‘True Emergency’Generalized pustular psoriasis is the most serious form of psoriasis, with more than half of all patients with the condition needing hospitalization.
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Lifelong Care of the Patient With AchondroplasiaA polysomnography is recommended in the first year of life for patients with achondroplasia to identify abnormalities in breathing patterns.
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Rare Disease Researchers Warn NIH Budget Cuts Could Threaten Progress and Endanger LivesWith a $48 billion annual budget, the US National Institutes of Health is the world’s largest public funder of biomedical research.
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Clinicians Treating HAE Have Many Options, With More on the WayFour long-term prophylaxis and 4 on-demand therapies for hereditary angioedema are now on the market.
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National Amyloidosis Awareness Month: Expert Says Future of Treatment Is BrightAmyloidosis, which has several types, is diagnosed in at least 4000 Americans per year.
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Liver Function Testing for AATD: Essential but ConfusingLiver function tests (LFTs) play a critical role in how patients with alpha-1 antitrypsin deficiency (AATD) manage their disease.April 11, 2025
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Why Being Diagnosed With CIDP Was a ReliefYou would be forgiven for thinking being diagnosed with an incurable, rare disease like CIDP is a bad thing, because rationally it is.April 11, 2025
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How Patients Act as Teachers of Rare DiseaseLiving with PD has been the most challenging thing about my life.April 8, 2025
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Respiratory Challenges Among Patients With Friedreich AtaxiaWhen I was first diagnosed with Friedreich ataxia (FA), there were questions related to swallowing/choking on foods and liquids.April 7, 2025
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Massive Hemoptysis in IgG4-Related Respiratory DiseaseA patient with recurrent hemoptysis was eventually diagnosed with IgG4-related respiratory disease following extensive investigations.
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Using Markers of Prognosis to Estimate Survival in ATTR-CMThe ability to accurately predict survival/life expectancy in ATTR-CM can better inform clinical decision-making.
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Novel Imaging Tools May Be Used to Monitor Therapeutic Changes in ATTR-CM and ATTR-PNThis article highlights the potential of 99mTc-PYP SPECT/CT in monitoring therapeutic responses to siRNA treatment in ATTR.
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Quantitative Magnetic Resonance Neurography May Offer Diagnostic Value for CIDPThis article discusses the diagnostic value of quantitative magnetic resonance neurography in patients with CIDP.
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Do Physician, Patient Perspectives Diverge on Overall Health in AAV?Researchers explore the potential divergences in physician and patient perspectives regarding overall health in AAV.

- Achondroplasia
- Acute Lymphoblastic Leukemia
- Alagille Syndrome
- Alpha-1 Antitrypsin Deficiency
- ANCA-Associated Vasculitis
- Cholangiocarcinoma
- Chronic Inflammatory Demyelinating Polyneuropathy
- Chronic Lymphocytic Leukemia
- Cold Agglutinin Disease
- Cystic Fibrosis
- Diffuse Large B-Cell Lymphoma
- Dravet Syndrome
- Duchenne Muscular Dystrophy
- Fetal and Neonatal Alloimmune Thrombocytopenia
- Friedreich Ataxia
- Gastrointestinal Stromal Tumor
- Generalized Pustular Psoriasis
- Hemolytic Disease of the Fetus and Newborn
- Hemophilia
- Hepatocellular Carcinoma
- Hereditary Angioedema
- Huntington Disease
- Idiopathic Pulmonary Fibrosis
- IgG4-Related Disease
- Immune Thrombocytopenia
- Lennox-Gastaut Syndrome
- Long Chain Fatty Acid Oxidation Disorder
- Lysosomal Acid Lipase Deficiency
- Medullary Thyroid Carcinoma
- Multiple Sclerosis
- Myasthenia Gravis
- Myelodysplastic Syndromes
- Myelofibrosis
- Neuromyelitis Optica Spectrum Disorder
- Paroxysmal Nocturnal Hemoglobinuria
- Pompe Disease
- Prader-Willi Syndrome
- Primary Biliary Cholangitis
- Primary Central Nervous System Lymphoma
- Pulmonary Arterial Hypertension
- Sickle Cell Disease
- Spinal Muscular Atrophy
- Systemic Mastocytosis
- Systemic Sclerosis
- Thymidine Kinase 2 Deficiency
- Transthyretin Amyloid Polyneuropathy
- Transthyretin-Mediated Amyloid Cardiomyopathy
- Wilson Disease