Works matching DE "HEPATOLENTICULAR degeneration diagnosis"

Results: 136

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

The clinical characteristics and MRI findings of acquired hepatocerebral degeneration.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 2, p. 158, doi. 10.3969/j.issn.1672-6731.2015.02.014

By:

DONG Xiao-yu;
XU Xiao-lin;
NAO Jian-fei

Publication type:

Article

Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7B Gene Mutation at Codon 778 in Southwest Iran.

Published in:

2012

By:

Galehdari, Hamid;
Tangestani, Raheleh

Publication type:

Case Study

Çocuklarda Wilson hastalığının nörolojik özellikleri ve yönetimi: 12 olgunun değerlendirilmesi.

Published in:

Türk Pediatri Arşivi, 2016, v. 51, n. 1, p. 15, doi. 10.5152/TurkPediatriArs.2016.3080

By:

Bayram, Ayşe Kaçar;
Gümüş, Hakan;
Arslan, Duran;
Özçora, Güldemet Kaya;
Kumandaş, Sefer;
Karacabey, Neslihan;
Canpolat, Mehmet;
Per, Hüseyin

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

Kayser-Fleischer rings of acute Wilson's disease.

Published in:

Baylor University Medical Center Proceedings, 2013, v. 26, n. 2, p. 166, doi. 10.1080/08998280.2013.11928948

By:

Mantas, Alexander Michael;
Wells, Jennifer;
Trotter, James

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 Disease with Situs Inversus Totalis.

Published in:

European Journal of General Medicine, 2013, v. 10, n. 2, p. 123, doi. 10.29333/ejgm/82293

By:

Erdogmus, Mehmet;
Karahan, Samet;
Basak, Mustafa;
Bulut, Kadir;
Avcı, Deniz;
Çetinkaya, Ali

Publication type:

Article

Morbus Wilson und Multiple Sklerose. Eine Koinzidenz.

Published in:

Der Nervenarzt, 2010, v. 81, n. 2, p. 226, doi. 10.1007/s00115-009-2876-0

By:

Günther, P.;
Baum, P.;
Then Bergh, F.;
Hermann, W.

Publication type:

Article

A CASE REPORT ON YOUNG ADULT WITH WILSONS DISEASE.

Published in:

International Journal of Pure Medical Research, 2023, v. 8, n. 11, p. 1

By:

Vajinepalli, Alekhya;
Korlagunta, Bhavana Devi;
Thota, Prudvi;
Katta, Sireesha;
Boddu, Naga Surya Pavan;
Rao Nallani, Venkata Rama;
Mythri, Ambavaram;
Nadendla, Ramarao

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 disease: copper deficiency and iatrogenic neurological complications with zinc therapy.

Published in:

Internal Medicine Journal, 2020, v. 50, n. 1, p. 121, doi. 10.1111/imj.14694

By:

Wu, Landy M.;
Ekladious, Adel;
Wheeler, Luke;
Mohamad, Abdulrazak A.

Publication type:

Article

Value of histochemical stains for copper in the diagnosis of paediatric copper storage disorders.

Published in:

Histopathology, 1999, v. 34, n. 5, p. 471, doi. 10.1046/j.1365-2559.1999.00676.x

By:

Sethi

Publication type:

Article

Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment.

Published in:

2005

By:

Brewer, George J.

Publication type:

journal article

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

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

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

Chronic hepatitis as a first manifestation of Wilson's disease.

Published in:

1972

By:

Sternlieb, Irmin;
Scheinberg, I. Herbert;
Sternlieb, I;
Scheinberg, I H

Publication type:

journal article

Rare Initial Presentation of Wilson's Disease as Acute Encephalopathy with Recurrent Seizure.

Published in:

Oman Medical Journal, 2023, v. 38, n. 2, p. 33, doi. 10.5001/omj.2023.17

By:

Leelamani, Vinitha;
George, Jacob

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

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's Disease: A Case Study, Societal Challenges and Environmental Influences on Diagnosis and Management.

Published in:

Nursing & Midwifery Research Journal, 2025, v. 21, n. 2, p. 135, doi. 10.1177/0974150X251316980

By:

Srivastava, Sunita;
Kumar, Anil;
Dogra, Preeti;
Jaifirin, Daniel

Publication type:

Article

Unusual Confluence: Exploring the Association of Biliary Atresia, Wilson Disease, and Iron Overload.

Published in:

ACG Case Reports Journal, 2024, v. 11, n. 10, p. 1, doi. 10.14309/crj.0000000000001500

By:

Duggal, Shivangini;
Meza-Rodriguez, Samantha;
Shahid, Saqib;
Zuckerman, Marc;
Borges, Jorge Chiquie

Publication type:

Article

Dysregulation of Copper Metabolism in a Patient With Acute-on-Chronic Liver Failure Worked up for Fulminant Wilson Disease.

Published in:

ACG Case Reports Journal, 2023, v. 10, n. 7, p. 1, doi. 10.14309/crj.0000000000001084

By:

Diamond, Ethan;
Newman, Jacob;
Schalet, Reid;
Lap, Coen J.;
Abutaleb, Ameer O.

Publication type:

Article

A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure.

Published in:

ACG Case Reports Journal, 2023, v. 10, n. 2, p. 1, doi. 10.14309/crj.0000000000000977

By:

Awan, Rehmat Ullah;
Rashid, Shazia;
Nabeel, Ambreen;
Gangwani, Manesh Kumar;
Samant, Hrishikesh

Publication type:

Article

DIAGNÓSTICO Y TRATAMIENTO DE LA ENFERMEDAD DE WILSON.

Published in:

Revista Gastrohnup, 2012, v. 14, n. 3, p. 115

By:

CASTAÑEDA GUILLOT, CARLOS

Publication type:

Article

Fulminant Liver Failure Presenting Shortly After Initiation of Doxycycline.

Published in:

2015

By:

Fish, Jacob;
Ingram, David;
Walkiewicz-Jedrzejczak, Dorota

Publication type:

Case Study

Progressive Familial Intrahepatic Cholestasis Type 3: Overlapping Presentation With Wilson Disease.

Published in:

Clinical Pediatrics, 2012, v. 51, n. 7, p. 689, doi. 10.1177/0009922812451076

By:

Ramraj, Ramya;
Finegold, Milton J.;
Karpen, Saul J.

Publication type:

Article

Acute Encephalopathy and Refractory Hypokalemia in a 12-Year-Old Boy.

Published in:

Iranian Journal of Child Neurology, 2025, v. 19, n. 1, p. 107, doi. 10.22037/ijcn.v19i1.45350

By:

Moosavian, Toktam;
Pournasiri, Zahra;
Fatollahierad, Shiva

Publication type:

Article

Psychological Signs as the Only Presentation of Wilson's Disease in an 11-Year-Old Boy.

Published in:

Iranian Journal of Child Neurology, 2018, v. 12, n. 2, p. 113

By:

BEIRAGHI TOOSI, Mehran;
AKHONDIAN, Javad;
ASHRAF ZADEH, Farah;
DONYADIDEH, Nahid;
JAVID, Asma

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

Wilson's disease: The liver, brain, eyes, and more.

Published in:

International Journal of Child Health & Human Development, 2020, v. 13, n. 3, p. 281

By:

Greydanus, Donald E.;
Hussain, Khadijah

Publication type:

Article

An inductively coupled plasma mass spectrometry method for relative free copper determination and generation of a paediatric reference interval.

Published in:

2018

By:

Wainwright, P.;
Wadey, D.;
Cook, P.

Publication type:

journal article

Caeruloplasmin oxidase activity: measurement in serum by use of o-dianisidine dihydrochloride on a microplate reader.

Published in:

2018

By:

Stepien, Karolina M.;
Guy, Mark

Publication type:

journal 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

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

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

Long-term mood disorder antedating the diagnosis of Wilson's disease.

Published in:

2011

By:

Vale, Thiago Cardoso;
Caramelli, Paulo;
Teixeira, Antônio Lúcio

Publication type:

Letter

Clinical features and outcome in patients with osseomuscular type of Wilson's disease.

Published in:

2017

By:

Hao Yu;
Juan-Juan Xie;
Yu-Chao Chen;
Qin-Yun Dong;
Yi Dong;
Wang Ni;
Zhi-Ying Wu;
Yu, Hao;
Xie, Juan-Juan;
Chen, Yu-Chao;
Dong, Qin-Yun;
Dong, Yi;
Ni, Wang;
Wu, Zhi-Ying

Publication type:

journal article

A report of whole-genome sequencing in neurologic Wilson's disease.

Published in:

2017

By:

Anwarullah, Anwarullah;
Paramasivam, Nagarajan;
Abbasi, Rashda;
Khan, Kafaitullah;
Sultan, Aneesa;
Schlesner, Matthias;
von Engelhardt, Jakob;
Ahmad, Nafees;
Aslam, Muhammad

Publication type:

Case Study

Sleep in Wilson's disease: A polysomnography-based study.

Published in:

Neurology India, 2010, v. 58, n. 6, p. 933, doi. 10.4103/0028-3886.73752

By:

Netto, Archana B.;
Sinha, Sanjib;
Taly, Arun B.;
Panda, Samhita;
Rao, Shivaji

Publication type:

Article

Unique CT imaging findings of liver in Wilson's disease.

Published in:

2011

By:

Li, Weixia;
Zhao, Xiangtian;
Zhan, Qian;
Chai, Weimin;
Mahyoub, Radfan;
Yang, Ying;
Shen, Baiyong;
Chen, Kemin

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

Wilson disease: Copper in the eye.

Published in:

2018

By:

TAKKAR, BRIJESH;
TEMKAR, SHREYAS;
VENKATESH, PRADEEP

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

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

ERKEN ÇOCUKLUK ÇAĞINDA WILSON HASTALARIN TANISAL ZORLUKLARI.

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2020, v. 18, n. 1, p. 41, doi. 10.4274/jcp.2020.0004

By:

Demirbaş, Fatma;
Ağayev, Ayça Efendioğlu;
Çaltepe, Gönül;
Kalaycı, Ayhan Gazi

Publication type:

Article