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

[1]  H. Bonkovsky,et al.  AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review , 2023, Gastroenterology.

[2]  H. Bonkovsky,et al.  Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum , 2022, JIMD reports.

[3]  J. E. Matos,et al.  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 , 2022, JIMD reports.

[4]  C. Evans,et al.  Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts , 2022, Advances in Therapy.

[5]  E. Di Pierro,et al.  Psychological Aspect and Quality of Life in Porphyrias: A Review , 2022, Diagnostics.

[6]  H. Bonkovsky,et al.  Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study , 2021, Liver international : official journal of the International Association for the Study of the Liver.

[7]  M. Sweetser,et al.  Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study , 2021, Orphanet Journal of Rare Diseases.

[8]  P. Petrides,et al.  Severe homocysteinemia in two givosiran-treated porphyria patients: is free heme deficiency the culprit? , 2021, Annals of Hematology.

[9]  Ó. Pozo,et al.  Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran , 2021, Journal of inherited metabolic disease.

[10]  L. Gouya,et al.  Renal function decline with small interfering RNA silencing ALAS1 , 2021 .

[11]  H. Bonkovsky,et al.  Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians. , 2021, The American journal of the medical sciences.

[12]  E. Guillén-Navarro,et al.  Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients , 2021, Orphanet Journal of Rare Diseases.

[13]  H. Bonkovsky,et al.  Givosiran, a novel treatment for acute hepatic porphyrias , 2020, Expert Review of Precision Medicine and Drug Development.

[14]  H. Bonkovsky,et al.  A phase 1/2 open label extension study of givosiran, an investigational RNAi therapeutic, in patients with acute intermittent porphyria , 2020, Journal of Hepatology.

[15]  H. Bonkovsky,et al.  Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria. , 2020, The New England journal of medicine.

[16]  K. Anderson Acute hepatic porphyrias: Current diagnosis & management. , 2019, Molecular genetics and metabolism.

[17]  H. Bonkovsky,et al.  Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). , 2019, Molecular genetics and metabolism.

[18]  H. Bonkovsky,et al.  Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria , 2019, The New England journal of medicine.

[19]  H. Bonkovsky,et al.  Benefits of prophylactic heme therapy in severe acute intermittent porphyria , 2019, Molecular genetics and metabolism reports.

[20]  H. Bonkovsky,et al.  Acute Hepatic Porphyrias: Review and Recent Progress , 2018, Hepatology communications.

[21]  P. Marquis,et al.  Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations , 2018, The Patient - Patient-Centered Outcomes Research.

[22]  H. Bonkovsky,et al.  EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks , 2018, Hepatology.

[23]  H. Bonkovsky,et al.  Acute hepatic porphyrias: Recommendations for evaluation and long‐term management , 2017, Hepatology.

[24]  J. Hakenberg,et al.  Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease , 2016, Human mutation.

[25]  R. Desnick,et al.  Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. , 2016, Molecular genetics and metabolism.

[26]  S. Milstein,et al.  Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification , 2015, Molecular therapy. Nucleic acids.

[27]  J. Tur,et al.  Anthropometric and Quality-of-Life Parameters in Acute Intermittent Porphyria Patients , 2015, Medicine.

[28]  H. Bonkovsky,et al.  Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. , 2014, The American journal of medicine.

[29]  K. Anderson Approaches to Treatment and Prevention of Human Porphyrias , 2012 .

[30]  E. Minder,et al.  Liver Transplantation because of Acute Liver Failure due to Heme Arginate Overdose in a Patient with Acute Intermittent Porphyria , 2012, Case Reports in Gastroenterology.

[31]  J. Deybach,et al.  Porphyrias , 2010, The Lancet.

[32]  Z. Petryka,et al.  Transitory renal failure following rapid administration of a relatively large amount of hematin in a patient with acute intermittent porphyria in clinical remission. , 2009, Acta medica Scandinavica.

[33]  K. Anderson,et al.  Open-label study of hemin for acute porphyria: clinical practice implications. , 2006, The American journal of medicine.

[34]  Jiandie D. Lin,et al.  Nutritional Regulation of Hepatic Heme Biosynthesis and Porphyria through PGC-1α , 2005, Cell.

[35]  H. Bonkovsky,et al.  Recommendations for the Diagnosis and Treatment of the Acute Porphyrias , 2005, Annals of Internal Medicine.

[36]  H. Puy,et al.  A molecular, enzymatic and clinical study in a family with hereditary coproporphyria , 2002, Journal of Inherited Metabolic Disease.

[37]  T. Peters,et al.  Self-rated psychosocial consequences and quality of life in the acute porphyrias , 2001, Journal of Inherited Metabolic Disease.

[38]  H. Bonkovsky,et al.  Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. , 1991, The American journal of gastroenterology.

[39]  C. Bardin,et al.  A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria. , 1990, Archives of internal medicine.

[40]  R. Jones Hematin-derived anticoagulant. Generation in vitro and in vivo , 1986, The Journal of experimental medicine.

[41]  M. Brodie,et al.  Acute hepatic porphyrias. , 1980, Clinics in haematology.

[42]  J. Lamon,et al.  PREVENTION OF ACUTE PORPHYRIC ATTACKS BY INTRAVENOUS HÆMATIN , 1978, The Lancet.

[43]  D. Tschudy,et al.  The effect of carbohydrate feeding on the induction of δ-aminolevulinic acid synthetase , 1964 .

[44]  C. Gray Porphyria , 1956 .

[45]  M. F. Stewart,et al.  Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. , 2015, JIMD reports.

[46]  Jun-tao Guo,et al.  Porphyrin and heme metabolism and the porphyrias. , 2013, Comprehensive Physiology.

[47]  C. Ts'ao,et al.  Hematin: effects on hemostasis. , 1990, The Journal of laboratory and clinical medicine.

[48]  D. Tschudy,et al.  Effect of diet on induction of experimental porphyria. , 1961, Metabolism: clinical and experimental.