Works matching DE "ACUTE intermittent porphyria"

Results: 176

German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 22, p. 6779, doi. 10.3390/jcm13226779

By:

Kubisch, Ilja;
Wohmann, Nils;
Wissniowski, Thaddäus Till;
Stauch, Thomas;
Oettel, Lucienne;
Diehl-Wiesenecker, Eva;
Somasundaram, Rajan;
Stölzel, Ulrich

Publication type:

Article

Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3091, doi. 10.3390/jcm12093091

By:

Guida, Claudio Carmine;
Nardella, Maria;
Fiorentino, Leonardo;
Latiano, Tiziana;
Napolitano, Francesco;
Ferrara, Gaetano;
Crisetti, Annalisa;
Mazzoccoli, Gianluigi;
Aucella, Francesco;
Aucella, Filippo

Publication type:

Article

Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.

Published in:

2024

By:

Thapar, Manish;
Singh, Akash;
Robinson, Kevin M;
Bonkovsky, Herbert L

Publication type:

Case Study

Use of sugammadex in acute intermittent porphyria.

Published in:

Revista Mexicana de Anestesiología, 2021, v. 44, n. 3, p. 229, doi. 10.35366/99671

By:

Tinoco, Joana;
Eloy, André;
Regufe, Rita;
Rosinha, Daniela;
Taleco, Tiago;
Silva-Duarte, João

Publication type:

Article

A 22-Year-Old Woman with Abdominal Pain.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, n. 7, p. 1074, doi. 10.1007/s11606-013-2747-z

By:

Jones, Benjamin;
Brzezinski, Walter;
Estrada, Carlos;
Rodriguez, Martin;
Kraemer, Ryan

Publication type:

Article

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene.

Published in:

2020

By:

Yang, Jing;
Han, Fei;
Chen, Qianlong;
Zhu, Tienan;
Zhao, Yongqiang;
Yu, Xuezhong;
Zhu, Huadong;
Cao, Jian;
Li, Xiaoqing

Publication type:

journal article

Diagnosis of acute intermittent porphyria in emergency department.

Published in:

QJM: An International Journal of Medicine, 2023, v. 116, n. 4, p. 317, doi. 10.1093/qjmed/hcac111

By:

Pannu, A K

Publication type:

Article

Wood's lamp urinary examination in acute intermittent porphyria.

Published in:

QJM: An International Journal of Medicine, 2022, v. 115, n. 7, p. 492, doi. 10.1093/qjmed/hcac100

By:

Li, A

Publication type:

Article

Safety of haem arginate in overdose: report of an uneventful fourfold accidental overdose.

Published in:

2022

By:

Patel, Nandesh C.;
Wroe, Nicholas;
McNally, Daniel;
Stein, Penny;
Bradberry, Sally M.;
Elamin, Muhammad E. M. O.

Publication type:

Letter

In This Issue.

Published in:: Clinical Pharmacology & Therapeutics, 2021, v. 110, n. 5, p. 1145, doi. 10.1002/cpt.2421
Publication type:: Article

A Drug‐Drug Interaction Study Evaluating the Effect of Givosiran, a Small Interfering Ribonucleic Acid, on Cytochrome P450 Activity in the Liver.

Published in:

Clinical Pharmacology & Therapeutics, 2021, v. 110, n. 5, p. 1250, doi. 10.1002/cpt.2419

By:

Vassiliou, Daphne;
Sardh, Eliane;
Harper, Pauline;
Simon, Amy R.;
Clausen, Valerie A.;
Najafian, Nader;
Robbie, Gabriel J.;
Agarwal, Sagar

Publication type:

Article

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 6, doi. 10.3390/ijns11010006

By:

Klippel, Claire;
Park, Jiwoon;
Sandin, Sean;
Winstone, Tara M. L.;
Chen, Xue;
Orton, Dennis;
Singh, Aranjeet;
Hill, Jonathan D.;
Shahbal, Tareq K.;
Hamacher, Emily;
Officer, Brandon;
Thompson, John;
Duong, Phi;
Grotzer, Tim;
Hahn, Si Houn

Publication type:

Article

Porphyric encephalopathy in a 15-year-old girl: A case report.

Published in:

2025

By:

Dukkipati, Saihari S;
Terschluse, Jordan;
Thodeson, Drew;
Beavers, Angela;
Muff-Luett, Melissa;
Ives, Claire;
Koh, Sookyong

Publication type:

Case Study

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies.

Published in:

2019

By:

Vita, Giuseppe;
Vita, Gian Luca;
Stancanelli, Claudia;
Gentile, Luca;
Russo, Massimo;
Mazzeo, Anna

Publication type:

journal article

Special Issue: Emerging Paradigms in Insulin Resistance.

Published in:

Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071471

By:

Collier, J. Jason;
Burke, Susan J.

Publication type:

Article

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

Published in:

Biomedicines, 2022, v. 10, n. 3, p. 648, doi. 10.3390/biomedicines10030648

By:

Longo, Miriam;
Paolini, Erika;
Meroni, Marica;
Dongiovanni, Paola

Publication type:

Article

Trastornos psiquiátricos como debut de porfiria aguda intermitente en un paciente sin historia familiar.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2022, v. 26, n. 6, p. 1

By:

González-Hernández, Osniel;
Borrego-Cordero, Grettel;
Agramonte-Llanes, Olga Margarita;
Fernández-Sánchez, Yang Seet

Publication type:

Article

Treatment of acute intermittent porphyria during pregnancy and posterior reversible encephalopathy syndrome after delivery: A case report.

Published in:

2017

By:

JIAN ZHANG;
YITING HU;
JIMIN ZHENG;
JUNCHA GAO;
HONGTAO HOU;
NA LIU;
YUZHEN WANG

Publication type:

Case Study

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

Published in:

Cells (2073-4409), 2021, v. 10, n. 10, p. 2579, doi. 10.3390/cells10102579

By:

Lin, Chia-Ni;
Shiao, Ming-Shi;
Cheng, Mei-Ling;
Chen, Chiung-Mei;
Kuo, Hung-Chou

Publication type:

Article

Editorial: Functional study of novel VUS (variant of uncertain significance) mutations in single-gene inherited disease.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1578736

By:

Yang, Guohua;
Zhong, Hua;
Wen, Huiliang;
Shen, Yiping

Publication type:

Article

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1551832

By:

Dong, Wentao;
Zeng, Bingliang;
Wang, Xiaolian;
Zhang, Rui;
Huang, Pei;
Fan, Bing;
Yuan, Min;
Li, Zicong

Publication type:

Article

A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of Complications.

Published in:

Rambam Maimonides Medical Journal, 2023, v. 14, n. 1, p. 1, doi. 10.5041/RMMJ.10490

By:

Edel, Yonatan;
Mamet, Rivka;
Sagi, Iftach;
Snast, Igor;
Kaftory, Ran;
Mimouni, Tomer;
Levi, Assi

Publication type:

Article

Administration of a Small, Interfering RNA Molecule: A New Effective Method for Preventing Attacks of Acute Porphyria.

Published in:

Hospital Chronicles, 2021, v. 16, n. 1, p. 3

By:

Yalouris, Athanasios G.

Publication type:

Article

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.

Published in:

Clinical Genetics, 2022, v. 101, n. 1, p. 116, doi. 10.1111/cge.14063

By:

Hu, Yuanxiang;
Li, Weihao;
Kang, Ninglin;
Ma, Liyan;
Teng, Qing;
Mo, Guiling;
Wu, Jiahong;
Wang, Xinyang;
Bi, Renjie;
Zhang, Songyun

Publication type:

Article

Acute intermittent porphyria: A rare cause of syndrome of inappropriate antidiuretic hormone secretion.

Published in:

Journal of the Royal College of Physicians of Edinburgh, 2023, v. 53, n. 2, p. 111, doi. 10.1177/14782715231161499

By:

Cunningham, William;
Chilaka, Joel;
Edwards, Nehemiah;
Poulton, Katherine

Publication type:

Article

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02913-0

By:

Horie, Yutaka;
Yasuoka, Yuka;
Adachi, Tomohide

Publication type:

Article

Women with acute intermittent porphyria have a defect in 5α-steroid production during the menstrual cycle.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2012, v. 91, n. 12, p. 1445, doi. 10.1111/j.1600-0412.2012.01536.x

By:

INNALA, EVA;
BÄCKSTRÖM, TORBJÖRN;
POROMAA, INGER SUNDSTRÖM;
ANDERSSON, CHRISTER;
BIXO, MARIE

Publication type:

Article

Psychiatric manifestations of treatable hereditary metabolic disorders in adults.

Published in:

Annals of General Psychiatry, 2014, v. 13, n. 1, p. 1, doi. 10.1186/s12991-014-0027-x

By:

Demily, Caroline;
Sedel, Frédéric

Publication type:

Article

Clinical-Pathological Conference Series from the Medical University of Graz: Case No 175: A 54-year-old man with hyponatremia and delirium after surgery for a prolapsed disc.

Published in:

Wiener Klinische Wochenschrift, 2023, v. 135, n. 7/8, p. 203, doi. 10.1007/s00508-022-02097-w

By:

Fabian, Elisabeth;
Reisinger, Anja;
Ribitsch, Werner;
Stadlbauer, Vanessa;
Eherer, Andreas J.;
Roller-Wirnsberger, Regina;
Toplak, Hermann;
Fickert, Peter;
Krejs, Guenter J.

Publication type:

Article

Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India.

Published in:

2013

By:

Jain, R. S.;
Nagpal, K.;
Vyas, A.

Publication type:

Letter

Perioperative Anesthetic Management of Patients Having Liver Transplantation for Uncommon Conditions.

Published in:

2018

By:

Bonavia, Anthony;
Pachuski, Justin;
Bezinover, Dmitri

Publication type:

journal article

Milium cysts on hands; hypertrichosis on face.

Published in:

2022

By:

de Queiroz, Marina;
Fortes Escobar, Gabriela;
Peruzzo, Juliano;
Escobar, Gabriela Fortes

Publication type:

journal article

Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report.

Published in:

Journal of the Peripheral Nervous System, 2024, v. 29, n. 4, p. 567, doi. 10.1111/jns.12668

By:

Theuriet, Julian;
Gerfaud‐Valentin, Mathieu;
Durel, Cécile‐Audrey;
Gouya, Laurent;
Pegat, Antoine

Publication type:

Article

The crystal structures of the enzyme hydroxymethylbilane synthase, also known as porphobilinogen deaminase.

Published in:: Acta Crystallographica: Section F, Structural Biology Communications, 2021, v. 77, n. 11, p. 388, doi. 10.1107/S2053230X2100964X
Publication type:: Article

Porphyria.

Published in:

Southern African Journal of Anaesthesia & Analgesia, 2023, p. S54, doi. 10.36303/SAJAA.3068

By:

Khumalo, M.

Publication type:

Article

Neuroimaging Findings in Acute Intermittent Porphyria.

Published in:

2011

By:

Bicknell, Simon G.;
Stewart, John D.

Publication type:

Case Study

Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition.

Published in:

BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/3216802

By:

Yang, Jing;
Zhu, Tienan;
Zhao, Yongqiang;
Yu, Xuezhong;
Zhu, Huadong;
Jiang, Yinan;
Li, Xiaoqing

Publication type:

Article

Editorial on the Special Issue "Heme Metabolism and Porphyria".

Published in:

2024

By:

Di Pierro, Elena;
Barman-Aksözen, Jasmin;
Richard, Emmanuel

Publication type:

Editorial

Potential Biomarkers for the Earlier Diagnosis of Kidney and Liver Damage in Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2024, v. 14, n. 1, p. 19, doi. 10.3390/life14010019

By:

Storjord, Elin;
Wahlin, Staffan;
Karlsen, Bård Ove;
Hardersen, Randolf I.;
Dickey, Amy K.;
Ludviksen, Judith K.;
Brekke, Ole-Lars

Publication type:

Article

Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2023, v. 13, n. 9, p. 1923, doi. 10.3390/life13091923

By:

Di Pierro, Elena;
Perrone, Miriana;
Franco, Milena;
Granata, Francesca;
Duca, Lorena;
Lattuada, Debora;
De Luca, Giacomo;
Graziadei, Giovanna

Publication type:

Article

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2023, v. 13, n. 9, p. 1889, doi. 10.3390/life13091889

By:

Belosevic, Adrian;
Minder, Anna-Elisabeth;
Gueuning, Morgan;
van Breemen, Franziska;
Thun, Gian Andri;
Mattle-Greminger, Maja P.;
Meyer, Stefan;
Baumer, Alessandra;
Minder, Elisabeth I.;
Schneider-Yin, Xiaoye;
Barman-Aksözen, Jasmin

Publication type:

Article

Mortality in Pedigrees with Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2022, v. 12, n. 12, p. 2059, doi. 10.3390/life12122059

By:

Neeleman, Rochus;
Musters, Kyra;
Wagenmakers, Margreet;
Mijnhout, Sophie;
Friesema, Edith;
Sijbrands, Eric;
Langendonk, Janneke

Publication type:

Article

Dental and Periodontal Health in Acute Intermittent Porphyria.

Published in:

Life (2075-1729), 2022, v. 12, n. 8, p. 1270, doi. 10.3390/life12081270

By:

Storjord, Elin;
Airila-Månsson, Stella;
Karlsen, Katarzyna;
Madsen, Martin;
Dahl, Jim André;
Landsem, Anne;
Fure, Hilde;
Ludviksen, Judith Krey;
Fjøse, Johannes Østrem;
Dickey, Amy K.;
Karlsen, Bård Ove;
Waage Nielsen, Erik;
Mollnes, Tom Eirik;
Brekke, Ole-Lars

Publication type:

Article

Clinical aspects of acute intermittent porphyria in northern Sweden: A population-based study.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 2009, v. 69, n. 5, p. 612, doi. 10.1080/00365510902935979

By:

Bylesjö, Ingemar;
Wikberg, Agneta;
Andersson, Christer

Publication type:

Article

Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells.

Published in:

2002

By:

Johansson, A.;
Möller, C.;
Gellerfors, P.;
Harper, P.;
Möller, C

Publication type:

journal article

A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report.

Published in:

2016

By:

MOHANLAL, SMILU;
GHILDIYAL, RADHA GULATI;
KONDEKAR, ALPANA;
WADE, POONAM;
SINHA, RICHA

Publication type:

Case Study

Challenges in the successful management of a case of acute intermittent porphyria in India.

Published in:

2016

By:

Patell, Rushad;
Dosi, Rupal;
Joshi, Harsh;
Shah, Purav;
Tripathi, Rishi

Publication type:

journal article

A case of repeated coma in an 8-year-old boy.

Published in:

2007

By:

Kenny, J. M.;
Chipolombwe, M. J.;
Molyneux, E.

Publication type:

Case Study

Neurological Complications of Acute Intermittent Porphyria.

Published in:

European Neurology, 2011, v. 66, n. 5, p. 247, doi. 10.1159/000330683

By:

Kuo, Hung-Chou;
Huang, Chin-Chang;
Chu, Chun-Che;
Lee, Ming-Jen;
Chuang, Wen-Li;
Wu, Chi-Lin;
Wu, Tony;
Ning, Hsiao-Chen;
Liu, Chih-Yang

Publication type:

Article

Early Physiotherapy Intervention of a Patient with Acute Intermittent Porphyria-A Single Case Study.

Published in:

Indian Journal of Physiotherapy & Occupational Therapy, 2021, v. 15, n. 2, p. 25, doi. 10.37506/ijpot.v15i2.14508

By:

Patel, Jagruti K.;
Patel, Nilima

Publication type:

Article