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Found 26 publications

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Journal: International journal of molecular sciences
Published: October 23, 2021
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Summary: Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.

Journal: Cells
Published: October 23, 2021
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Summary: Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda.

Journal: BMJ case reports
Published: October 20, 2021
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Summary: Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda.

Using the Zebrafish as a Genetic Model to Study Erythropoiesis.

Journal: International journal of molecular sciences
Published: October 13, 2021
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Summary: Using the Zebrafish as a Genetic Model to Study Erythropoiesis.

ABDOMINAL PAIN AND SEIZURES - A COLORFUL TURN OF EVENTS.

Journal: Harefuah
Published: August 16, 2021
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Summary: ABDOMINAL PAIN AND SEIZURES - A COLORFUL TURN OF EVENTS.

New therapeutic option for acute hepatic porphyrias.

Condition: Acute Hepatic Porphyrias (AHP)
Journal: Deutsche medizinische Wochenschrift (1946)
Treatment Used: Givosiran
Number of Patients: 0
Published: August 03, 2021
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Summary: This article discusses the use of givosiran in the treatment of patients with acute hepatic porphyrias.

Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1.

Journal: Sultan Qaboos University medical journal
Published: July 05, 2021
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Summary: Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1.

Unexpected presentation of acute porphyria.

Journal: BMJ case reports
Published: June 30, 2021
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Summary: Unexpected presentation of acute porphyria.

Severe homocysteinemia in two givosiran-treated porphyria patients: is free heme deficiency the culprit?

Condition: Acute Intermittent Porphyrias (AIP)
Journal: Annals of hematology
Treatment Used: Givosiran
Number of Patients: 2
Published: May 29, 2021
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Summary: This case series reports two patients with acute intermittent porphyrias (AIP) treated with givosiran.

Development of siRNA Therapeutics for the Treatment of Liver Diseases.

Condition: Liver Diseases
Journal: Methods in molecular biology (Clifton, N.J.)
Treatment Used: siRNA Therapeutics
Number of Patients: 0
Published: April 30, 2021
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Summary: This article discusses the use of small interfering RNA (siRNA)-based therapeutics in the treatment of patients with liver diseases.

Severe neuropathic attack in a woman with acute intermittent porphyria: a case report.

Journal: The Journal of international medical research
Published: January 12, 2021
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Summary: Severe neuropathic attack in a woman with acute intermittent porphyria: a case report.

Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report.

Condition: Acute Intermittent Porphyria
Journal: The American journal of case reports
Treatment Used: Combined Kidney and Liver Transplant
Number of Patients: 1
Published: November 18, 2020
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Summary: This study reported a case of a 19-year-old male patient who received a combined liver and kidney transplant for the treatment of acute intermittent porphyria.
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