Biosynthesis of heme and the porphyrias
Med Clin (Barc). 2023 Aug 18:S0025-7753(23)00420-7. doi: 10.1016/j.medcli.2023.04.037. Online ahead of print.NO ABSTRACTPMID:37827890 | DOI:10.1016/j.medcli.2023.04.037 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Jordi To-Figueras Source Type: research
Diagnosis, evaluation and monitoring of acute hepatic porphyria
Med Clin (Barc). 2023 Aug 19:S0025-7753(23)00423-2. doi: 10.1016/j.medcli.2023.07.005. Online ahead of print.NO ABSTRACTPMID:37827888 | DOI:10.1016/j.medcli.2023.07.005 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Isabel Solares Francisco Javier Castelb ón Rafael Enr íquez de Salamanca Montserrat Morales-Conejo Source Type: research
Long-term complications of acute hepatic porphyrias
Med Clin (Barc). 2023 Aug 18:S0025-7753(23)00427-X. doi: 10.1016/j.medcli.2023.04.038. Online ahead of print.NO ABSTRACTPMID:37827887 | DOI:10.1016/j.medcli.2023.04.038 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Jos é Salvador García Morillo Marta P érez Quintana Antonio Riera-Mestre Source Type: research
Impact of acute hepatic porphyrias on the quality of life of patients according to the frequency of crises
Med Clin (Barc). 2023 Sep 15:S0025-7753(23)00422-0. doi: 10.1016/j.medcli.2023.03.040. Online ahead of print.NO ABSTRACTPMID:37827886 | DOI:10.1016/j.medcli.2023.03.040 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Mar ía Barreda-Sánchez Encarna Guill én-Navarro Source Type: research
Pathophysiology of attacks in acute hepatic porphyrias
Med Clin (Barc). 2023 Aug 11:S0025-7753(23)00421-9. doi: 10.1016/j.medcli.2023.05.029. Online ahead of print.NO ABSTRACTPMID:37827885 | DOI:10.1016/j.medcli.2023.05.029 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Delia D'Avola Source Type: research
Therapeutic options for the management of acute hepatic porphyria
Med Clin (Barc). 2023 Aug 11:S0025-7753(23)00425-6. doi: 10.1016/j.medcli.2023.05.028. Online ahead of print.NO ABSTRACTPMID:37827883 | DOI:10.1016/j.medcli.2023.05.028 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Paula Aguilera Peir ó Source Type: research
Further characterization of the neuro-endocrine phenotype associated with the PPOX-related variegate porphyria
Variegate porphyria is caused by mutations in the PPOX gene. It usually presents in adolescents and adults as an autosomal dominant condition, with cutaneous features or acute peripheral and/or central nervous system crises. A rarer variant, homozygous variegate porphyria, presents in childhood with cutaneous manifestations as well as and neurophenotypes. (Source: Pediatric Neurology)
Source: Pediatric Neurology - September 19, 2023 Category: Neurology Authors: Yousef A. Assaleh, Brahim Tabarki Tags: Short Communication Source Type: research
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
van Loggerenberg et al. functionally assay ∼90% of all possible missense variants in HMBS, which is associated with acute intermittent porphyria. The resulting variant effect maps reveal sequence-structure-function relationships and provide evidence to distinguish pathogenic from benign variants. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Fr ésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Floderus, Caroline Tags: Article Source Type: research
Further Characterization of the Neuroendocrine Phenotype Associated With the PPOX-Related Variegate Porphyria
This study sought to further characterize the homozygous PPOX-related neuroendocrine phenotype. (Source: Pediatric Neurology)
Source: Pediatric Neurology - September 19, 2023 Category: Neurology Authors: Yousef A. Assaleh, Brahim Tabarki Tags: Clinical Observations Source Type: research
Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin
This article aims to provide the most updated information on targeting the liver with ASO and siRNA drugs. The generated knowledge may stimulate further investigations in this growing field of new therapeutic entities for the treatment of some human systemic diseases, which currently have no or limited options for treatment.PMID:37696583 | DOI:10.1124/pharmrev.123.000815 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - September 11, 2023 Category: Drugs & Pharmacology Authors: Anagha Gogate Jordyn Belcourt Milan Shah Alicia Zongxun Wang Alexis Frankel Holly Kolmel Matthew Chalon Prajith Stephen Aarush Kolli Sherouk M Tawfik Jing Jin Raman Bahal Theodore P Rasmussen Jose E Manautou Xiao-Bo Zhong Source Type: research
Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin
This article aims to provide the most updated information on targeting the liver with ASO and siRNA drugs. The generated knowledge may stimulate further investigations in this growing field of new therapeutic entities for the treatment of some human systemic diseases, which currently have no or limited options for treatment.PMID:37696583 | DOI:10.1124/pharmrev.123.000815 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - September 11, 2023 Category: Drugs & Pharmacology Authors: Anagha Gogate Jordyn Belcourt Milan Shah Alicia Zongxun Wang Alexis Frankel Holly Kolmel Matthew Chalon Prajith Stephen Aarush Kolli Sherouk M Tawfik Jing Jin Raman Bahal Theodore P Rasmussen Jose E Manautou Xiao-Bo Zhong Source Type: research
Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin
This article aims to provide the most updated information on targeting the liver with ASO and siRNA drugs. The generated knowledge may stimulate further investigations in this growing field of new therapeutic entities for the treatment of some human systemic diseases, which currently have no or limited options for treatment.PMID:37696583 | DOI:10.1124/pharmrev.123.000815 (Source: Pharmacognosy Reviews)
Source: Pharmacognosy Reviews - September 11, 2023 Category: Drugs & Pharmacology Authors: Anagha Gogate Jordyn Belcourt Milan Shah Alicia Zongxun Wang Alexis Frankel Holly Kolmel Matthew Chalon Prajith Stephen Aarush Kolli Sherouk M Tawfik Jing Jin Raman Bahal Theodore P Rasmussen Jose E Manautou Xiao-Bo Zhong Source Type: research
Update on the Porphyrias
Annu Rev Med. 2023 Aug 4. doi: 10.1146/annurev-med-042921-123602. Online ahead of print.ABSTRACTThe porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies...
Source: Annual Review of Medicine - August 4, 2023 Category: General Medicine Authors: Amy K Dickey Rebecca Karp Leaf Manisha Balwani Source Type: research
Update on the Porphyrias
Annu Rev Med. 2023 Aug 4. doi: 10.1146/annurev-med-042921-123602. Online ahead of print.ABSTRACTThe porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies...
Source: Annual Review of Medicine - August 4, 2023 Category: General Medicine Authors: Amy K Dickey Rebecca Karp Leaf Manisha Balwani Source Type: research
Update on the Porphyrias
Annu Rev Med. 2023 Aug 4. doi: 10.1146/annurev-med-042921-123602. Online ahead of print.ABSTRACTThe porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies...
Source: Annual Review of Medicine - August 4, 2023 Category: General Medicine Authors: Amy K Dickey Rebecca Karp Leaf Manisha Balwani Source Type: research
