Literature DB >> 21149904

Acute intermittent porphyria with transient cortical blindness.

Javeed Iqbal Bhat1, Umar Amin Qureeshi, Mushtaq Ahmad Bhat.   

Abstract

Acute intermittent porphyria is a hereditary disorder characterized by deficient activity of the enzyme porphobilinogen deaminase. It manifests with occasional neurovisceral crises due to overproduction of porphyrin precursors. We report a 12 year old male child with acute intermittent porphyria, who presented with encephalopathy and transient blindness of cerebral origin.

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Year:  2010        PMID： 21149904     DOI： 10.1007/s13312-010-0152-9

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  8 in total

1.  Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.

Authors:  Victor M Pulgar; Makiko Yasuda; Lin Gan; Robert J Desnick; Herbert L Bonkovsky
Journal:  Mol Genet Metab       Date:  2019-01-07       Impact factor: 4.797

Review 2.  Acute Intermittent Porphyria in children: A case report and review of the literature.

Authors:  Manisha Balwani; Preeti Singh; Anju Seth; Ekta Malik Debnath; Hetanshi Naik; Dana Doheny; Brenden Chen; Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2016-10-15       Impact factor: 4.797

3.  Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients.

Authors:  Daniel A Jaramillo-Calle; Daniel C Aguirre Acevedo
Journal:  JIMD Rep       Date:  2018-08-02

4.  Acute intermittent porphyria in Argentina: an update.

Authors:  Gabriela Nora Cerbino; Esther Noemí Gerez; Laura Sabina Varela; Viviana Alicia Melito; Victoria Estela Parera; Alcira Batlle; María Victoria Rossetti
Journal:  Biomed Res Int       Date:  2015-05-17       Impact factor: 3.411

5.  Acute intermittent porphyria: A critical diagnosis for favorable outcome.

Authors:  Chhaya Divecha; Milind S Tullu; Akanksha Gandhi; Chandrahas T Deshmukh
Journal:  Indian J Crit Care Med       Date:  2016-07

Review 6.  Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Authors:  Arshia Angural; Akshi Spolia; Ankit Mahajan; Vijeshwar Verma; Ankush Sharma; Parvinder Kumar; Manoj Kumar Dhar; Kamal Kishore Pandita; Ekta Rai; Swarkar Sharma
Journal:  Front Genet       Date:  2020-04-30       Impact factor: 4.599

Review 7.  Acute porphyrias - A neurological perspective.

Authors:  Lea M Gerischer; Franziska Scheibe; Astrid Nümann; Martin Köhnlein; Ulrich Stölzel; Andreas Meisel
Journal:  Brain Behav       Date:  2021-10-17       Impact factor: 2.708

8.  Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review.

Authors:  Ankita Goel Sharma; Kaveri Pandit; Shalu Gupta; Virendra Kumar
Journal:  Indian J Crit Care Med       Date:  2022-03
  8 in total

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