Works matching DE "HEPATOLENTICULAR degeneration diagnosis"

Results: 136

Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease.

Published in:

Liver International, 2018, v. 38, n. 10, p. 1860, doi. 10.1111/liv.13715

By:

Członkowska, Anna;
Rodo, Maria;
Wierzchowska‐Ciok, Agata;
Smolinski, Lukasz;
Litwin, Tomasz

Publication type:

Article

Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease.

Published in:

Liver International, 2018, v. 38, n. 2, p. 350, doi. 10.1111/liv.13520

By:

Guillaud, Olivier;
Dumortier, Jérôme;
Brunet, Anne‐Sophie;
Pelosse, Martine;
Heissat, Sophie;
Rivet, Christine;
Lachaux, Alain;
Mallet, Isabelle;
Bost, Muriel

Publication type:

Article

Wilson's disease: P and H MR spectroscopy and clinical correlation.

Published in:

Neuroradiology, 2010, v. 52, n. 11, p. 977, doi. 10.1007/s00234-010-0661-1

By:

Sinha, Sanjib;
Taly, A.;
Ravishankar, S.;
Prashanth, L.;
Vasudev, M.

Publication type:

Article

Long-Term Urinary Copper Excretion and Exchangeable Copper in Children With Wilson Disease Under Chelation Therapy.

Published in:

2022

By:

Ngwanou, Dany Hermann;
Couchonnal, Eduardo;
Parant, François;
Belmalih, Abdelouahed;
Guillaud, Olivier;
Dumortier, Jérôme;
Bost, Muriel;
Lachaux, Alain

Publication type:

journal article

Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.

Published in:

2022

By:

Lorente-Arencibia, Pascual;
Garcia-Villarreal, Luis;
Gonzalez-Montelongo, Rafaela;
Rubio-Rodriguez, Luis A.;
Flores, Carlos;
Garay-Sanchez, Paloma;
delaCruz, Tanausu;
Santana-Verano, Milagros;
Rodriguez-Esparragon, Francisco;
Benitez-Reyes, Juana N.;
Fernandez-Fuertes, Fernando;
Tugores, Antonio;
García-Villarreal, Luis;
González-Montelongo, Rafaela;
Rubio-Rodríguez, Luis A;
Garay-Sánchez, Paloma;
delaCruz, Tanausú;
Rodríguez-Esparragón, Francisco;
Fernández-Fuertes, Fernando

Publication type:

journal article

Fatty Acid-Binding Protein 1 as a Potential New Serological Marker of Liver Status in Children With Wilson Disease.

Published in:

2021

By:

Bierńa, Joanna Beata;
Jańczyk, Wojciech;
Konopka, Ewa;
Wierzbicka-Rucińska, Aldona;
Więckowski, Sebastian;
Obrycki, Łukasz;
Sarnecki, JŁdrzej;
Kanarek, Ewelina;
Cukrowska, Bożena;
Socha, Piotr;
Bierła, Joanna Beata;
Sarnecki, Jędrzej

Publication type:

journal article

Long-Term Urinary Copper Excretion on Chelation Therapy in Children with Wilson Disease.

Published in:

2021

By:

Chanpong, Atchariya;
Dhawan, Anil

Publication type:

journal article

Pediatric Wilson Disease Presenting as Acute Liver Failure: An Individual Patient Data Meta-analysis.

Published in:

2020

By:

Vandriel, Shannon M;
Ayoub, Mohammed D;
Ricciuto, Amanda;
Hansen, Bettina E;
Ling, Simon C;
Ng, Vicky L;
Roberts, Eve A;
Kamath, Binita M

Publication type:

journal article

Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition.

Published in:

2018

By:

Socha, Piotr;
Janczyk, Wojciech;
Dhawan, Anil;
Baumann, Ulrich;
D'Antiga, Lorenzo;
Tanner, Stuart;
Iorio, Raffaele;
Vajro, Pietro;
Houwen, Roderick;
Fischler, Björn;
Dezsofi, Antal;
Hadzic, Nedim;
Hierro, Loreto;
Jahnel, Jörg;
McLin, Valérie;
Nobili, Valerio;
Smets, Francoise;
Verkade, Henkjan J.;
Debray, Dominique

Publication type:

journal article

Early Onset of Wilson Disease: Diagnostic Challenges.

Published in:

2017

By:

Wiernicka, Anna;
Dądalski, Maciej;
Jańczyk, Wojciech;
Kamińska, Diana;
Naorniakowska, Magdalena;
Hüsing-Kabar, Anna;
Schmidt, Hartmut;
Socha, Piotr

Publication type:

journal article

Controversies and Variation in Diagnosing and Treating Children With Wilson Disease: Results of an International Survey.

Published in:

2016

By:

Sturm, Ekkehard;
Piersma, Femke E.;
Tanner, Malcolm S.;
Socha, Piotr;
Roberts, Eve A.;
Shneider, Benjamin L.

Publication type:

journal article

Biochemical diagnosis of Wilson's disease: an update.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2022, v. 3, n. 2, p. 103, doi. 10.1515/almed-2022-0020

By:

Martínez-Morillo, Eduardo;
Miquel Bauça, Josep

Publication type:

Article

Familial Mediterranean Fever Mimicking Wilson's Disease: A Case Report.

Published in:

Journal of Pediatric Research, 2018, v. 5, n. 3, p. 1, doi. 10.4274/jpr.63308

By:

Turan, Caner;
Karakoyun, Miray;
Ecevit, Çiğdem Ömür;
Yılmaz, Funda;
Aydoğdu, Sema

Publication type:

Article

Maligniteyi Taklit Eden Wilson Hastalığı Olgusu.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2014, v. 52, n. 1, p. 64, doi. 10.4274/Haseki.1297

By:

Akın, Ahmet;
Keşkek, Sakir Özgür;
Aliustaoğlu, Mehmet;
Sahinoğlu-Keşkek, Nedime

Publication type:

Article

Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers.

Published in:

Epigenetics & Chromatin, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13072-019-0255-z

By:

Mordaunt, Charles E.;
Kieffer, Dorothy A.;
Shibata, Noreene M.;
Członkowska, Anna;
Litwin, Tomasz;
Weiss, Karl-Heinz;
Zhu, Yihui;
Bowlus, Christopher L.;
Sarkar, Souvik;
Cooper, Stewart;
Wan, Yu-Jui Yvonne;
Ali, Mohamed R.;
LaSalle, Janine M.;
Medici, Valentina

Publication type:

Article

Magnetic resonance imaging findings in diagnosis and prognosis of Wilson disease.

Published in:

Journal of Research in Medical Sciences, 2018, v. 23, p. 23, doi. 10.4103/jrms.JRMS_362_16

By:

Salari, Mehri;
Fayyazi, Emad;
Mirmosayyeb, Omid

Publication type:

Article

Autoimmune Hepatitis or Wilson's Disease, a Clinical Dilemma.

Published in:

Hepatitis Monthly, 2013, v. 13, n. 5, p. 1, doi. 10.5812/hepatmon.7872

By:

Deutsch, Melanie;
Emmanuel, Theodoros;
Koskinas, John

Publication type:

Article

Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review.

Published in:

Hepatitis Monthly, 2012, v. 12, n. 8, p. 1, doi. 10.5812/hepatmon.6233

By:

Di Stefano, Valeria;
Lionetti, Elena;
Rotolo, Novella;
La Rosa, Mario;
Leonardi, Salvatore

Publication type:

Article

Wilson disease in children and young adults - State of the art.

Published in:

Saudi Journal of Gastroenterology, 2022, v. 28, n. 1, p. 21, doi. 10.4103/sjg.sjg_501_21

By:

Chanpong, Atchariya;
Dhawan, Anil

Publication type:

Article

Presentation, Diagnosis and Outcome of Predominantly Hepatic Wilson's Disease in Adult Saudi Patients: A Single Centre Experience.

Published in:

Saudi Journal of Gastroenterology, 2012, v. 18, n. 5, p. 334, doi. 10.4103/1319-3767.101135

By:

Altraif, Ibrahim;
Handoo, Fayaz A.;
Al Ghamdi, Hamdan;
Aljumah, Abdulrahman;
Al Jumah, Mohammed;
Afzal, Mohammed

Publication type:

Article

Wilson disease: a most unusual patient.

Published in:

QJM: An International Journal of Medicine, 2016, v. 109, n. 2, p. 117, doi. 10.1093/qjmed/hcv142

By:

Walshe, J. M.

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

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 64, doi. 10.3390/ijns8040064

By:

Mak, Chloe Miu;
Choi, Ching Tung;
Wong, Tsz Ki;
Chin, Hanson Heearn;
Lai, Hillman Kai Yin;
Yuet, Koon Yu

Publication type:

Article

Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation.

Published in:

2018

By:

Pan, Lishou;
Ding, Dan;
Leng, Huilin;
Deng, Xinbo;
Xu, Yanming

Publication type:

Case Study

Wilson's disease presenting as central pontine myelinolysis.

Published in:

2017

By:

Safdarian, Mahdi;
Munhoz, Renato;
Aghaei, Mahboubeh;
Rohani, Mohammad;
Munhoz, Renato P

Publication type:

Case Study

Pseudo-dominant inheritance in Wilson's disease.

Published in:

2016

By:

Park, Hanul;
Park, Dong;
Kim, Min;
Yoon, Jung

Publication type:

Letter

A Rare Case of Wilson Disease in a 72-Year-Old Patient.

Published in:

ACG Case Reports Journal, 2019, v. 6, n. 3, p. 1, doi. 10.14309/crj.0000000000000024

By:

Cao, Christopher;
Colangelo, Timothy;
Dhanekula, Raja Koteswar;
Brandt, Daniel;
Laothamatas, Indira;
Thapar, Manish;
Herrine, Steven K.;
Civan, Jesse M.

Publication type:

Article

Adolescent onset Wilson's disease misdiagnosed as psychosis.

Published in:

2016

By:

Dudani, Kishore;
Solanki, Ram Kumar;
Sharma, Pradeep;
Singh, Dharamdeep

Publication type:

Case Study

Wilson’s disease with superimposed autoimmune features: Report of two cases and review.

Published in:

Journal of Gastroenterology & Hepatology, 2000, v. 15, n. 5, p. 570, doi. 10.1046/j.1440-1746.2000.02158.x

By:

Milkiewicz, P;
Milkiewicz, Piotr;
Saksena, Sushma;
Hubscher, Stefan G.;
Elias, Elwyn

Publication type:

Article

Progressive familial intrahepatic cholestasis 3 Camouflaging as Wilson disease in a 12-year-old: a diagnostic Odyssey.

Published in:

Gastroenterology & Hepatology from Bed to Bench, 2024, v. 17, n. 3, p. 320, doi. 10.22037/ghfbb.v17i3.2999

By:

Panda, Kalpana;
Pradhan, Subhasis;
Dash, Mrutunjay;
Pati, Girish Kumar

Publication type:

Article

Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 69, doi. 10.1111/cge.12951

By:

Cheng, N.;
Wang, H.;
Wu, W.;
Yang, R.;
Liu, L.;
Han, Y.;
Guo, L.;
Hu, J.;
Xu, L.;
Zhao, J.;
Liu, Q.;
Li, K.;
Wang, X.;
Chen, W.

Publication type:

Article

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1308, doi. 10.1038/ejhg.2013.43

By:

Gialluisi, Alessandro;
Incollu, Simona;
Pippucci, Tommaso;
Lepori, Maria Barbara;
Zappu, Antonietta;
Loudianos, Georgios;
Romeo, Giovanni

Publication type:

Article

Immunoglobulin a nephropathy as the first clinical presentation of Wilson disease: a case report and literature review.

Published in:

2021

By:

Zhang, Yong-Zhe;
Jian, Geng;
He, Ping;
Yu, Rui;
Tian, Mi;
Wu, Yan;
Zhang, Bei-Ru

Publication type:

journal article

Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.

Published in:

Annals of General Psychiatry, 2017, v. 16, p. 1, doi. 10.1186/s12991-017-0142-6

By:

Demily, Caroline;
Parant, François;
Cheillan, David;
Broussolle, Emmanuel;
Pavec, Alice;
Guillaud, Olivier;
Restier, Lioara;
Lachaux, Alain;
Bost, Muriel

Publication type:

Article

The Observatory. Prenatal Testing.

Published in:: Medical Laboratory Observer (MLO), 2015, v. 47, n. 2, p. 7
Publication type:: Article

A WEB SERVICE-BASED MOBILE APPLICATION FOR DETECTING KAYSER-FLEISCHER RING IN EYE CORNEA.

Published in:

Instrumentation Science & Technology, 2014, v. 42, n. 1, p. 95, doi. 10.1080/10739149.2013.841190

By:

De Capua, Claudio;
Fabbiano, Laura;
Lipari, Gianluca;
Morello, Rosario;
Vacca, Gaetano

Publication type:

Article

Wilson's Disease only Presenting with Isolated Unilateral Resting Tremor.

Published in:: 2011
Publication type:: Letter

A young man with drop attacks… mystery lied in the eyes.

Published in:

2014

By:

Gurjar, Prasad;
Acharya, Sourya;
Shukla, Samarth;
Mahajan, S. N.

Publication type:

Journal Article

Wilson Disease with Hepatic Impairment and Thrombocytopenia: A Case Report.

Published in:

2018

By:

Karthickeyan, Krishnan;
Reddy, Chegireddy Mahindranath;
Mohamed, Jahangeer Batcha Noor;
Vaibhavi, Kothagundu

Publication type:

Case Study

Comparison of MRI, EEG, EPs and ECD-SPECT in Wilson's disease.

Published in:

Acta Neurologica Scandinavica, 2001, v. 103, n. 2, p. 71, doi. 10.1034/j.1600-0404.2001.103002071.x

By:

Giagheddu, M.;
Tamburini, G.;
Piga, M.;
Tacconi, P.;
Giagheddu, A.;
Serra, A.;
Siotto, P.;
Satta, L.;
Demelia, L.;
Marrosu, F.

Publication type:

Article

Decompensated Liver Disease in a Patient with Neurocysticercosis.

Published in:

2017

By:

Safadi, Sarah;
Mohamed, Aly;
Altamimi, Barakat;
Strickland, Robert;
McCarthy, Denis;
Mohamed, Aly M;
Altamimi, Barakat A;
Strickland, Robert G;
McCarthy, Denis M

Publication type:

journal article

A neuropsychological comparison of siblings with neurological versus hepatic symptoms of Wilson’s Disease.

Published in:

Neurocase (Taylor & Francis Ltd), 2015, v. 21, n. 2, p. 154, doi. 10.1080/13554794.2013.878726

By:

Arguedas, Deborah;
Stewart, Jeanette;
Hodgkinson, Suzanne;
Batchelor, Jennifer

Publication type:

Article

Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.

Published in:

Journal of Genetics, 2017, v. 96, n. 6, p. 933, doi. 10.1007/s12041-017-0857-9

By:

LE ANH TUAN PHAM;
TRONG TUE NGUYEN;
HOANG BICH NGA LE;
DAT QUOC TRAN;
CAM TU HO;
THINH HUY TRAN;
VAN THANH TA;
THE HUNG BUI;
VAN KHANH TRAN

Publication type:

Article

Establishment of a Labile Bound Copper Reference Interval in a Healthy Population via an Inductively Coupled Plasma Mass Spectrometry Dual Filtration--Based Assay.

Published in:

Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 7, p. 818, doi. 10.5858/arpa.2023-0259-OA

By:

Bitzer, Anna C.;
Fox, Jessica;
Day, Patrick L.;
Pazdernik, Vanessa K.;
Smith, Carin Y.;
Wermers, Michelle;
Jannetto, Paul J.;
Bornhorst, Joshua A.

Publication type:

Article

Wilson's Disease Presents as Recurrent Hypokalemic Muscle Paralysis.

Published in:

Indian Journal of Nephrology, 2023, v. 33, n. 4, p. 292, doi. 10.4103/ijn.ijn_143_22

By:

Shankar, Mythri;
Nayaka, Monica;
Aralapuram, Kishan;
Gurusiddaiah, Sreedhara C.

Publication type:

Article

IgA Nephropathy with Wilson's Disease: A Case Report and Literature Review.

Published in:

Indian Journal of Nephrology, 2021, v. 31, n. 5, p. 474, doi. 10.4103/ijn.IJN_227_20

By:

Bhandari, Gaurav;
Tiwari, Vaibhav;
Gupta, Anurag;
Gupta, Pallav;
Bhargava, Vinant;
Malik, Manish;
Gupta, Ashwani;
Bhalla, Anil K.;
Rana, Devinder S.

Publication type:

Article

D‑penicillamine‑induced membranous nephropathy.

Published in:

2014

By:

R. P. Senthil Kumar;
N. D. Srinivasa Prasad;
S. Tirumavalavan;
M. Edwin Fernando

Publication type:

Letter to the Editor

Evaluation of Kayser-Fleischer ring in Wilson disease by anterior segment optical coherence tomography.

Published in:

2017

By:

Sridhar, Mittanamalli S.;
Shaik, Bajibhi;
Rangaraju, Advithi;
Anbarasu, Kavitha;
Reddy, Sharat Putta;
Daga, Sachin;
Jayalakshmi, Sita

Publication type:

journal article

A study of the non-motor neurological symptoms of Wilson's disease and its correlation with global disease severity and motor symptoms.

Published in:

2022

By:

Chakraborty, Arka Prava;
Biswas, Atanu

Publication type:

Abstract

Wilson disease: Copper in the eye.

Published in:

2018

By:

TAKKAR, BRIJESH;
TEMKAR, SHREYAS;
VENKATESH, PRADEEP

Publication type:

Case Study