×
About 750 results

ALLMedicine™ Porphyria Center

Research & Reviews  365 results

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patie...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913433
Orphanet Journal of Rare Diseases; Buendía-Martínez J, Barreda-Sánchez M et. al.

Feb 28th, 2021 - Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods ...

Severe neuropathic attack in a woman with acute intermittent porphyria: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809922
The Journal of International Medical Research; Huang S, Li R et. al.

Jan 12th, 2021 - Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease with a broad spectrum of clinical manifestations, and can be easily confused with other diseases. Many patients with porphyria may have symptoms of peripheral nerve ...

Updates on the diagnosis and management of the most common hereditary porphyrias: AIP a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727547
Hematology. American Society of Hematology. Education Pro... Linenberger M, Fertrin KY

Dec 4th, 2020 - The porphyrias are a family of metabolic disorders caused by defects in the activity of one of the enzymes in the heme biosynthetic pathway. Acute intermittent porphyria (AIP), caused by autosomal dominant mutations in the gene encoding hydroxymet...

Liver Transplantation for Acute Intermittent Porphyria.
https://doi.org/10.1002/lt.25959
Liver Transplantation : Official Publication of the Ameri... Lissing M, Nowak G et. al.

Dec 1st, 2020 - Recurrent attacks of acute intermittent porphyria (AIP) result in poor quality of life and significant risks of morbidity and mortality. Liver transplantation (LT) offers a cure, but published data on outcomes after LT are limited. We assessed the...

Brain ventricular enlargement in human and murine acute intermittent porphyria.
https://doi.org/10.1093/hmg/ddaa204
Human Molecular Genetics; Jericó D, Luis EO et. al.

Sep 11th, 2020 - The morphological changes that occur in the central nervous system of patients with severe acute intermittent porphyria (AIP) have not yet been clearly established. The aim of this work was to analyze brain involvement in patients with severe AIP ...

see more →

Guidelines  1 results

Best practice guidelines on clinical management of acute attacks of porphyria and their...
https://doi.org/10.1177/0004563212474555
Annals of Clinical Biochemistry; Stein P, Badminton M et. al.

Apr 22nd, 2013 - The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porph...

see more →

Drugs  1 results see all →

Clinicaltrials.gov  377 results

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patie...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913433
Orphanet Journal of Rare Diseases; Buendía-Martínez J, Barreda-Sánchez M et. al.

Feb 28th, 2021 - Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods ...

Severe neuropathic attack in a woman with acute intermittent porphyria: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809922
The Journal of International Medical Research; Huang S, Li R et. al.

Jan 12th, 2021 - Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disease with a broad spectrum of clinical manifestations, and can be easily confused with other diseases. Many patients with porphyria may have symptoms of peripheral nerve ...

Givlaari - givosiran sodium injection, solution-Alnylam Pharmaceuticals, Inc.
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=167e663c-11e1-497b-a3fc-951d65d58eaa

Jan 3rd, 2021 - GIVLAARI is indicated for the treatment of adults with acute hepatic porphyria (AHP). GIVLAARI is an aminolevulinate synthase 1-directed small interfering RNA indicated for the treatment of adults with acute hepatic porphyria (AHP). (1)

Updates on the diagnosis and management of the most common hereditary porphyrias: AIP a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727547
Hematology. American Society of Hematology. Education Pro... Linenberger M, Fertrin KY

Dec 4th, 2020 - The porphyrias are a family of metabolic disorders caused by defects in the activity of one of the enzymes in the heme biosynthetic pathway. Acute intermittent porphyria (AIP), caused by autosomal dominant mutations in the gene encoding hydroxymet...

Liver Transplantation for Acute Intermittent Porphyria.
https://doi.org/10.1002/lt.25959
Liver Transplantation : Official Publication of the Ameri... Lissing M, Nowak G et. al.

Dec 1st, 2020 - Recurrent attacks of acute intermittent porphyria (AIP) result in poor quality of life and significant risks of morbidity and mortality. Liver transplantation (LT) offers a cure, but published data on outcomes after LT are limited. We assessed the...

see more →

News  3 results

EMA Panel Backs Givlaari, First Treatment for Acute Hepatic Porphyria
https://www.medscape.com/viewarticle/924635

Jan 30th, 2020 - The European Medicines Agency's (EMA) Committee for Medicinal Products for Human Use (CHMP) recommended marketing authorization for givosiran (Givlaari, Alnylam), the first treatment for acute hepatic porphyria (AHP) for patients aged 12 years and...

Elusive Diagnosis of Acute Intermittent Porphyria in a Teenage Girl
https://www.medscape.com/viewarticle/889629

Dec 5th, 2017 - NEW YORK (Reuters Health) - Abdominal pain and hyponatremia in a 16-year-old girl with constipation and disordered eating confounded the diagnosis of a much less common condition, acute intermittent porphyria (AIP), according to a case report publ...

see more →

Patient Education  3 results see all →