Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.

Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report.

Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria.

Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.

Common features of rare disease patients in the emergency department: a systematised literature review.

Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.

Pediatric Liver Diseases: Next-Generation Therapies.

Acute Intermittent Porphyria: A Rare Cause of Postoperative Abdominal Pain and Hyponatremia.

Development and validation of an LC-MS/MS method for measurement of porphobilinogen in urine.

Screening for acute hepatic porphyria in postural tachycardia syndrome.

A female adolescent with hyponatremia, seizure, rhabdomyolysis, arterial hypertension and neuropsychiatric symptoms.

Features of Undiagnosed Abdominal Pain and Diagnostic Status of Acute Hepatic Porphyria in Japan: A Retrospective Study.

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.

Acute Hepatic Porphyria vs. Guillain-Barré Syndrome: Response to "Axonal Neuropathy in Hepatic Porphyria Should Not be Confused With Guillain-Barre Syndrome".

Efficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study.

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome.

Acute Hepatic Porphyria Presenting as Guillain-Barré Syndrome: Importance of Early Recognition and Screening.

Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013-2023).

Acute hepatic porphyria in Denmark; a retrospective study.

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension.

Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.

Acute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges.

Worsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.

Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.

Hepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.

Will the Institute for Clinical and Economic Review's Shared Savings Approach Decrease Value-Based Prices Most for the Most Severe Diseases?

Therapeutic approach to acute crises of hepatic porphyrias.

Injectable hydrogel encapsulating siMMP13 with anti-ROS and anti-apoptotic functions for osteoarthritis treatment.

A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria.

Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation.

High disease burden and healthcare resource usage in patients with acute porphyria-A population-based analysis.

Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patients.

Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning.

Neurofilament light chain as a biomarker for acute hepatic porphyrias.

PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.

Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.

RNA therapeutics for metabolic disorders.

Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.

A high urinary urobilinogen/serum total bilirubin ratio indicates acute hepatic porphyria in patients with abdominal pain.

The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study.

Diagnosis, evaluation and monitoring of acute hepatic porphyria.

Therapeutic options for the management of acute hepatic porphyria.

Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.

Reducing diagnostic delays in Acute Hepatic Porphyria using electronic health records data and machine learning: a multicenter development and validation study.

Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.

Update on the Porphyrias.

Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial.

Emergence of Small Interfering RNA-Based Gene Drugs for Various Diseases.

Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report.

Maternal and fetal outcomes in acute hepatic porphyria: A Swedish National Cohort Study.

Orphan Drugs in Neurology-A Narrative Review.

Brazilian registry of patients with porphyria: REBRAPPO study.

Pharmacokinetic-pharmacodynamic model of urinary δ-aminolevulinic acid reduction after givosiran treatment in patients with acute hepatic porphyria.

Chemistry, structure and function of approved oligonucleotide therapeutics.

Pathogenesis of acute encephalopathy in acute hepatic porphyria.

A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications.

Quantifying the impact of symptomatic acute hepatic porphyria on well-being via patient-reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study.

Clinical features of Japanese patients with acute hepatic porphyria.

Population Pharmacokinetic Analysis of the RNAi Therapeutic Givosiran in Patients with Acute Hepatic Porphyria.

[Acute hepatic porphyrias].

An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.

Mortality in Pedigrees with Acute Intermittent Porphyria.

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.

Prevalence of Undiagnosed Acute Hepatic Porphyria in Cyclic Vomiting Syndrome and Overlap in Clinical Symptoms.

Small interfering RNA: Discovery, pharmacology and clinical development-An introductory review.

ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias.

Eslicarbazepine acetate is porphyrogenic and should be used with caution in patients with the acute hepatic porphyrias.

A case of pink urine associated with abdominal pain crisis.

EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.

Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.

Therapeutic siRNA: State-of-the-Art and Future Perspectives.

Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.

Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts.

Clinical study applying machine learning to detect a rare disease: results and lessons learned.

Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy.

Givosiran for the treatment of acute hepatic porphyria.

Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.

Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.

Hereditary Coproporphyria Mimicking Guillain-Barré Syndrome After COVID-19 Infection.

[Interfering RNA and antisense oligonucleotide treatments currently available in France: An update].

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.

RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.

Red urine and a red herring - diagnosing rare diseases in the light of the COVID-19 pandemic.

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study.

Porphyrias in the Age of Targeted Therapies.

Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations.

Acute Hepatic Porphyrias: "Purple Flags"-Clinical Features That Should Prompt Specific Diagnostic Testing.

Pink urine as an inkling for a diagnostic dilemma: acute hepatic porphyria.

A Drug-Drug Interaction Study Evaluating the Effect of Givosiran, a Small Interfering Ribonucleic Acid, on Cytochrome P450 Activity in the Liver.

Acute hepatic porphyria and maternal health: Clinical and biochemical follow-up of 44 pregnancies.

Neurology of the acute hepatic porphyrias.

Expert consensus statement on acute hepatic porphyria in Belgium.

Metastases-Like Liver Lesions in Two Different Types of Porphyria - Porphyria Cutanea Tarda (PCT) and Acute Hepatic Porphyria (AHP) - and the Role of CEUS.

Estimating the broader fiscal consequences of acute hepatic porphyria (AHP) with recurrent attacks in Belgium using a public economic analytic framework.

[New therapeutic option for acute hepatic porphyrias].

Multiple roles of haem in cystathionine β-synthase activity: implications for hemin and other therapies of acute hepatic porphyria.

The Nonclinical Disposition and Pharmacokinetic/Pharmacodynamic Properties of N-Acetylgalactosamine-Conjugated Small Interfering RNA Are Highly Predictable and Build Confidence in Translation to Human.

Treatment with assisted reproduction technologies in women with acute hepatic porphyria.

Nonclinical Pharmacokinetics and Absorption, Distribution, Metabolism, and Excretion of Givosiran, the First Approved N-Acetylgalactosamine-Conjugated RNA Interference Therapeutic.

Development of siRNA Therapeutics for the Treatment of Liver Diseases.

Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study.

Acute hepatic porphyria and anaesthesia: a practical approach to the prevention and management of acute neurovisceral attacks.

Givosiran: A Review in Acute Hepatic Porphyria.

Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians.

Givosiran to treat acute porphyria.

Normal reference ranges for urinary δ-aminolevulinic acid and porphobilinogen levels.

5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.

Cost savings with hemin versus givosiran for the treatment of patients with acute intermittent porphyria (AIP).

Prevalence and Characteristics of Abdominal Pain in the United States.

Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria.

Delivery of Oligonucleotides to the Liver with GalNAc: From Research to Registered Therapeutic Drug.

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

The clinical importance of early acute hepatic porphyria diagnosis: a national cohort.

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.

Penetrance and predictive value of genetic screening in acute porphyria.

Givosiran: First Approval.

Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

European Association for the Study of the Liver The International Liver Congress 2019.

Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias.

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Feasibility of cellular bioenergetics as a biomarker in porphyria patients.

Benefits of prophylactic heme therapy in severe acute intermittent porphyria.

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

[CME: Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?].

Acute hepatic porphyria and cancer risk: a nationwide cohort study.

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

What hematologists need to know about acute hepatic porphyria.

Hepatic porphyria: A narrative review.

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.