Publications:

Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.

Biomedicines

Longo, Miriam M; Paolini, Erika E; Meroni, Marica M; Dongiovanni, Paola P

Publication Date: 2022-03-11

Variant appearance in text: HMBS: Asp359Asn

PubMed Link: 35327450

Variant Present in the following documents:

• Main text
• biomedicines-10-00648.pdf

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Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.

F1000Research

Ferreira, Gloria C GC; Oberstaller, Jenna J; Fonseca, Renée R; Keller, Thomas E TE; Adapa, Swamy Rakesh SR; Gibbons, Justin J; Wang, Chengqi C; Liu, Xiaoming X; Li, Chang C; Pham, Minh M; Dayhoff Ii, Guy W GW; Duong, Linh M LM; Reyes, Luis Tañón LT; Laratelli, Luciano Enrique LE; Franz, Douglas D; Fatumo, Segun S; Bari, Atm Golam AG; Freischel, Audrey A; Fiedler, Lindsey L; Dokur, Omkar O; Sharma, Krishna K; Cragun, Deborah D; Busby, Ben B; Jiang, Rays H Y RHY

Publication Date: 2019

Variant appearance in text: HMBS: 1075G>A; Asp359Asn; rs144949995

PubMed Link: 31824661

Variant Present in the following documents:

• Main text
• f1000research-8-20975.pdf

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Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Frontiers In Pharmacology

Fu, Yibao Y; Jia, Jinmeng J; Yue, Lishu L; Yang, Ruiying R; Guo, Yongli Y; Ni, Xin X; Shi, Tieliu T

Publication Date: 2019

Variant appearance in text: rs144949995

PubMed Link: 31572191

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

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A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.

Medicine

Ren, Yi Y; Xu, Lin-Xin LX; Liu, Yun-Feng YF; Xiang, Chen-Yu CY; Gao, Fei F; Wang, Yan Y; Bai, Tao T; Yin, Jian-Hong JH; Zhao, Yang-Lu YL; Yang, Jing J

Publication Date: 2018-09

Variant appearance in text: HMBS: 1075G>A; D359N

PubMed Link: 30212967

Variant Present in the following documents:

• Main text
• medi-97-e12295.pdf

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

Human Mutation

Chen, Brenden B; Solis-Villa, Constanza C; Hakenberg, Jörg J; Qiao, Wanqiong W; Srinivasan, Ramakrishnan R RR; Yasuda, Makiko M; Balwani, Manisha M; Doheny, Dana D; Peter, Inga I; Chen, Rong R; Desnick, Robert J RJ

Publication Date: 2016-11

Variant appearance in text: HMBS: 1075G>A; D359N

PubMed Link: 27539938

Variant Present in the following documents:

• Main text

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