Works matching DE "ACUTE intermittent porphyria"

Results: 171

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

Analysis of whole blood protoporphyrin and plasma porphyrin in patients on dapsone.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2024, v. 40, n. 2, p. 1, doi. 10.1111/phpp.12962

By:

Haridas, Amrutha;
Dawe, Robert S.;
McGuire, Victoria A.

Publication type:

Article

Acute intermittent porphyria: a diagnostic challenge.

Published in:

2024

By:

Bigosiński, Karol;
Dubaj, Maciej;
Szudy-Szczyrek, Aneta;
Hus, Marek

Publication type:

Case Study

Feigning Acute Intermittent Porphyria.

Published in:

2014

By:

Elkhatib, Rania;
Idowu, Modupe;
Brown, Gregory S.;
Jaber, Yasmeen M.;
Reid, Matthew B.;
Person, Cheryl

Publication type:

Case Study

Generalized tonic clonic fits precipitated by drotaverine as initial presentation of acute intermittent porphyria: a case report.

Published in:

Anaesthesia, Pain & Intensive Care, 2024, v. 28, n. 2, p. 376, doi. 10.35975/apic.v27i2.2195

By:

Hamza, Ameer;
Butt, Nauman Ismat;
Imran, Ali;
Qaiser, Fahad;
Tariq, Sohail;
Bader, Aymen;
Ajmal Ghoauri, Muhammad Sohail

Publication type:

Article

Causal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.

Published in:

PLoS ONE, 2024, v. 19, n. 3, p. 1, doi. 10.1371/journal.pone.0299536

By:

Yang, Xiaoyu;
Wang, Shuomin;
Sun, Chen;
Xia, Yunhong

Publication type:

Article

Acute Intermittent Porphyria: A Diagnostic Challenge.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 7, p. 917, doi. 10.1177/0883073811427603

By:

Anyaegbu, Elizabeth;
Goodman, Michael;
Ahn, Sun-Young;
Thangarajh, Mathula;
Wong, Michael;
Shinawi, Marwan

Publication type:

Article

Acute intermittent porphyria: Diagnostic dilemma and treatment options.

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2015, v. 31, n. 3, p. 407, doi. 10.4103/0970-9185.161683

By:

Kaur, Mohan Deep;
Hazarika, Nita;
Saraswat, Namita;
Sood, Rajesh

Publication type:

Article

Acute intermittent porphyria.

Published in:

2015

By:

Syal, Kartik;
Bhatt, Rashmi;
Singh, Surinder;
Ohri, Anil

Publication type:

Case Study

Case Reports Prevalence and Clinical Features of Acute Intermittent Porphyria: A Retrospective Analysis.

Published in:

Journal of the American Geriatrics Society, 2014, v. 62, n. 9, p. 1813, doi. 10.1111/jgs.12991

By:

Mumoli, Nicola;
Vitale, Josè;
Sabatini, Silvia;
Cocciolo, Massimo;
Gambaccini, Lisa;
Masi, Lorenzo;
Cei, Marco

Publication type:

Article

Hepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.

Published in:

Digestive Diseases & Sciences, 2024, v. 69, n. 11, p. 4268, doi. 10.1007/s10620-024-08661-w

By:

Singal, Ashwani K.;
Reddy, Rewanth K.;
Gudiwada, Mohan C.;
Jasti, Jaswant J.;
Anderson, Karl E.

Publication type:

Article

Use of Optical Coherence Tomography and Optical Coherence Tomography Angiography in the Diagnosis and Follow-Up of Endogenous Candida Endophthalmitis: A Case Report.

Published in:

2024

By:

Kubicka-Trząska, Agnieszka;
Bugara, Dawid;
Żuber-Łaskawiec, Katarzyna;
Pociej-Marciak, Weronika;
Markiewicz, Anna;
Romanowska-Dixon, Bożena;
Karska-Basta, Izabella

Publication type:

Case Study

Acute intermittent porphyria symptoms during the menstrual cycle.

Published in:

Internal Medicine Journal, 2015, v. 45, n. 7, p. 725, doi. 10.1111/imj.12784

By:

Ahangari, A.;
Bäckström, T.;
Innala, E.;
Andersson, C.;
Turkmen, S.

Publication type:

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

A case of previously undiagnosed acute intermittent porphyria in a 34-year-old primigravida with gestational diabetes mellitus.

Published in:

2017

By:

Žebeljan, Ivan;
Anzeljc, Veronika;
Serdinšek, Tamara;
Mujezinović, Faris

Publication type:

Case Study

Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.

Published in:

FEBS Open Bio, 2022, v. 12, n. 12, p. 2136, doi. 10.1002/2211-5463.13490

By:

Christie, Marthe S.;
Laitaoja, Mikko;
Aarsand, Aasne K.;
Kallio, Juha P.;
Bustad, Helene J.

Publication type:

Article

Diagnosis of Porphyria after sternotomy for severe calcific coronary artery disease, a Case Report.

Published in:

Middle East Journal of Internal Medicine, 2017, v. 10, n. 2, p. 16, doi. 10.5742/meim.2017.92937

By:

Alazzam, Fuad;
Altarabsheh, Salah;
Khasawneh, Mohammad

Publication type:

Article

Specialty laboratory testing for chronic abdominal pain in irritable bowel syndrome.

Published in:

Scandinavian Journal of Gastroenterology, 2025, v. 60, n. 3, p. 248, doi. 10.1080/00365521.2025.2456491

By:

Cymbal, Michael;
Chatterjee, Arjun;
Ajayi-Fox, Patricia;
Lyu, Ruishen;
Auron, Moises;
Baggott, Brian B.

Publication type:

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

Liver Transplantation From Donors With Acute Intermittent Porphyria.

Published in:

2011

By:

Dowman, Joanna K.;
Gunson, Bridget K.;
Bramhall, Simon;
Newsome, Philip N.;
Badminto, Mike N.

Publication type:

Case Study

Porphyria: a case report.

Published in:

2022

By:

Baidya, Sujata;
Kandel, Pratibha;
Rajkarnikar, Smrity;
Kadel, Anuradha;
Niraula, Apeksha;
Dubey, Raju Kumar;
Lamichhane, Machhindra;
Raut, Mithileshwer;
Bhattarai, Aseem;
Tuladhar, Eans Tara;
Sharma, Vijay Kumar

Publication type:

Case Study

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03284-w

By:

Sardh, Eliane;
Balwani, Manisha;
Rees, David C.;
Anderson, Karl E.;
Jia, Gang;
Sweetser, Marianne T.;
Wang, Bruce

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

Acute Intermittent Porphyria Presenting with Non-Convulsive Status Epilepticus and Posterior Reversible Encephalopathy Syndrome.

Published in:

Neurology India, 2023, v. 71, n. 6, p. 1302, doi. 10.4103/0028-3886.391353

By:

Kumar, Vivek;
Lalawmpuia, Chhakchhuak;
Lodhi, Preeti;
Guglani, Bhuvnesh

Publication type:

Article

Posterior reversible encephalopathy syndrome as a rare presenting feature of acute intermittent porphyria.

Published in:

2015

By:

Lakhotia, Manoj;
Pahadiya, Hans Raj;
Singh, Jagdish;
Bhansali, Shashank;
Choudhary, Sukhdev;
Jangid, Hemant

Publication type:

Case Study

Spectrum of emergency department presentation in patients of acute intermittent porphyria: Experience from a North Indian tertiary care center.

Published in:

Neurology India, 2010, v. 58, n. 1, p. 95, doi. 10.4103/0028-3886.60410

By:

Kumar, Susheel;
Sharma, Navneet;
Modi, Manish;
Sharma, Aman;
Mahi, Sushil;
Varma, Subhash

Publication type:

Article

Porphyrias: Uncommon disorders masquerading as common childhood diseases.

Published in:

Journal of Postgraduate Medicine, 2023, v. 69, n. 3, p. 164, doi. 10.4103/jpgm.jpgm_698_22

By:

Chakraborty A.;
Muranjan M.;
Karande S.;
Kharkar V.

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

Porphyria Presenting with Psychotic Symptoms and Developmental Regression: A Diagnostic Dilemma.

Published in:

2024

By:

Pillai, Sruthi Pradeep;
Mathew, Kathleen Anne;
Jith, Arya

Publication type:

Case Study

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

LATE ACUTE INTERMITTENT PORPHYRIA ATTACK IN A PATIENT WITH TYPE 2 DIABETES.

Published in:

2015

By:

Toma, Nicoleta;
Stancu, Maria M.;
Savu, Octavian

Publication type:

Case Study

Acute Intermittent Porphyria in Argentina: An Update.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/946387

By:

Cerbino, Gabriela Nora;
Gerez, Esther Noemí;
Varela, Laura Sabina;
Melito, Viviana Alicia;
Parera, Victoria Estela;
Batlle, Alcira;
Rossetti, María Victoria

Publication type:

Article

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.

Published in:

2022

By:

Sriprakoon, Vachiravit;
Ittagornpunth, Chalisa;
Puapaiboon, Nakorn;
Bunyahathaipat, Aekasit;
Piriyanon, Punnapat;
Khositseth, Sookkasem;
Rojnueangnit, Kitiwan

Publication type:

Case Study

Givosiran for the treatment of acute hepatic porphyria.

Published in:

Expert Review of Clinical Pharmacology, 2022, v. 15, n. 4, p. 383, doi. 10.1080/17512433.2022.2075848

By:

Ricci, Andrea;
Ventura, Paolo

Publication type:

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

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome.

Published in:

2025

By:

Handa, Hideo;
Masuda, Hiroki;
Hanayama, Satoki;
Kajiyama, Amika;
Suzuki, Sawako;
Sugiyama, Atsuhiko;
Yokote, Koutaro;
Kuwabara, Satoshi

Publication type:

Case Study

An easily overlooked disease in the early stages: acute intermittent porphyria.

Published in:

BMC Neurology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12883-025-04064-0

By:

Wang, Jing;
Chen, Jiurong;
Xu, Ke;
Li, Zhizhong;
Yu, Gang;
Zheng, Peng;
Jing, Luo;
Feng, Jinzhou;
Qin, Xinyue

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

Palliative Care Aspects of Acute Intermittent Porphyria – A Case Report.

Published in:

Indian Journal of Palliative Care, 2024, v. 30, n. 3, p. 1, doi. 10.25259/IJPC_14_2024

By:

Abraham, Neethu Susan;
Mishra, Seema;
Vig, Saurabh

Publication type:

Article

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.

Published in:

Journal of Internal Medicine, 2022, v. 291, n. 6, p. 824, doi. 10.1111/joim.13463

By:

Lissing, Mattias;
Vassiliou, Daphne;
Floderus, Ylva;
Harper, Pauline;
Bottai, Matteo;
Kotopouli, Marianna;
Hagström, Hannes;
Sardh, Eliane;
Wahlin, Staffan

Publication type:

Article

RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.

Published in:

Journal of Internal Medicine, 2022, v. 291, n. 5, p. 593, doi. 10.1111/joim.13443

By:

Sardh, Eliane;
Harper, Pauline

Publication type:

Article

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

Published in:

2018

By:

Schmitt, C.;
Lenglet, H.;
Yu, A.;
Delaby, C.;
Benecke, A.;
Lefebvre, T.;
Letteron, P.;
Paradis, V.;
Wahlin, S.;
Sandberg, S.;
Harper, P.;
Sardh, E.;
Sandvik, A. K.;
Hov, J. R.;
Aarsand, A. K.;
Chiche, L.;
Bazille, C.;
Scoazec, J.‐Y.;
To-Figueras, J.;
Carrascal, M.

Publication type:

journal article

Ensuring timely genetic diagnosis in adults.

Published in:

Canadian Medical Association Journal (CMAJ), 2023, v. 195, n. 11, p. E413, doi. 10.1503/cmaj.221652

By:

Faghfoury, Hanna;
Guerin, Andrea

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

Porphyrins and the porphyrias.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.16061

By:

Fontanellas, Antonio;
Avila, Matías A.;
Deybach, Jean‐Charles;
Badminton, Michael N.

Publication type:

Article

Case‐based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.15924

By:

Balwani, Manisha;
Keel, Siobán;
Meissner, Peter;
Sonderup, Mark;
Stein, Penelope;
Yasuda, Makiko

Publication type:

Article

Liver transplantation and primary liver cancer in porphyria.

Published in:

Liver International, 2025, v. 45, n. 3, p. 1, doi. 10.1111/liv.15894

By:

Lissing, Mattias;
Wang, Bruce;
Wahlin, Staffan

Publication type:

Article