Works matching DE "ALKAPTONURIA"

Results: 75

Alkaptonuria in a 5-year-old boy in Iraq.

Published in:

2008

By:

Al-Mefraji, S. H.

Publication type:

Case Study

ALKAPTONURIA: A CASE REPORT.

Published in:

2018

By:

Banerjee, Siwalik;
Anver, Himashi;
Pinnell, Jonathon;
Perkins, Phillip

Publication type:

Case Study

Alteration of Metabolic Pathways in Osteoarthritis.

Published in:

Metabolites (2218-1989), 2019, v. 9, n. 1, p. 11, doi. 10.3390/metabo9010011

By:

Zhai, Guangju

Publication type:

Article

Fatal oxidative haemolysis and methaemoglobinaemia in a patient with alkaptonuria and acute kidney injury.

Published in:

Clinical Kidney Journal, 2015, v. 8, n. 1, p. 109, doi. 10.1093/ckj/sfu121

By:

Mullan, Adam;
Cocker, Derek;
Taylor, Gordon;
Millar, Colin;
Ranganath, Lakshminarayan

Publication type:

Article

Impact of chronic kidney disease on the natural history of alkaptonuria.

Published in:

Clinical Kidney Journal, 2012, v. 5, n. 4, p. 352, doi. 10.1093/ckj/sfs079

By:

Faria, Bernardo;
Vidinha, Joana;
Pêgo, Cátia;
Correia, Hugo;
Sousa, Tânia

Publication type:

Article

Affective Symptoms in a Patient with Parkinson's Disease and Alkaptonuria.

Published in:

Psychiatric Annals, 2020, v. 50, n. 2, p. 81, doi. 10.3928/00485713-20200106-01

By:

Ertek, İrem Ekmekci;
Candansayar, Selçuk

Publication type:

Article

Alkaptonuric ochronosis: a clinical study from Ardabil, Iran.

Published in:

International Journal of Rheumatic Diseases, 2014, v. 17, n. 3, p. 327, doi. 10.1111/1756-185X.12287

By:

Azami, Ahad;
Maleki, Nasrollah;
Tavosi, Zahra

Publication type:

Article

Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency -- a case report.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2016, v. 22, n. 2, p. 71, doi. 10.18544/PEDM-22.02.0054

By:

Hogendorf, Anna;
Pietrzak, Iwona;
Antosik, Karolina;
Borowiec, Maciej;
Młynarski, Wojciech

Publication type:

Article

Misdiagnosis of alkaptonuria in an elderly patient.

Published in:

Journal of Research & Practice on the Musculoskeletal System (JRPMS), 2018, v. 2, n. 1, p. 7, doi. 10.22540/JRPMS-02-007

By:

Tseliou, Georgia C.;
Giannelou, Mayra P.;
Boulios, Evangelos A.;
Klangou, Anastasia K.;
Katsoulis, George N.;
Bailas, George D.;
Georgountzos, Athanasios I.

Publication type:

Article

Inflammatory rheumatic diseases in patients with ochronotic arthropathy.

Published in:

Modern Rheumatology, 2021, v. 31, n. 5, p. 1031, doi. 10.1080/14397595.2020.1868121

By:

Inel, Tuba Yuce;
Kisa, Pelin Teke;
Balci, Ali;
Uslu, Sadettin;
Arslan, Zumrut;
Hismi, Burcu Ozturk;
Ucar, Ulku;
Arslan, Nur;
Onen, Fatos;
Sari, Ismail

Publication type:

Article

Operating the blues.

Published in:

Clinical Case Reports, 2016, v. 4, n. 12, p. 1201, doi. 10.1002/ccr3.710

By:

Chatzis, Andrew C.;
Kanakis, Meletios A.;
Sofianidou, Joanne;
Tsoutsinos, Alexandros J.

Publication type:

Article

Focal Ligamentum Flavum Hypertrophy with Ochronotic Deposits: An Unusual Cause for Neurogenic Claudication in Alkaptonuria.

Published in:

Asian Spine Journal, 2012, v. 6, n. 2, p. 148, doi. 10.4184/asj.2012.6.2.148

By:

Reddy, Rajesh;
Vijayasaradhi, Mudumba;
Biswal, Debabrat

Publication type:

Article

A case of alkaptonuria - ultrasonographic findings.

Published in:

Medical Ultrasonography, 2013, v. 15, n. 4, p. 321, doi. 10.11152/mu.2013.2066.154.lod2

By:

Damian, Laura-Otilia;
Felea, Ioana;
Boloşiu, Călin;
Botar-Jid, Carolina;
Fodor, Daniela;
Rednic, Simona

Publication type:

Article

First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106948

By:

Habbal, Mohammad Zouheir;
Bou-Assi, Tarek;
Zhu, Jun;
Owen, Renius;
Chehab, Farid F.

Publication type:

Article

Detection of Novel Visible-Light Region Absorbance Peaks in the Urine after Alkalization in Patients with Alkaptonuria.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086606

By:

Tokuhara, Yasunori;
Shukuya, Kenichi;
Tanaka, Masami;
Mouri, Mariko;
Ohkawa, Ryunosuke;
Fujishiro, Midori;
Takahashi, Tomoo;
Okubo, Shigeo;
Yokota, Hiromitsu;
Kurano, Makoto;
Ikeda, Hitoshi;
Yamaguchi, Seiji;
Inagaki, Shinobu;
Ishige-Wada, Mika;
Usui, Hiromi;
Yatomi, Yutaka;
Shimosawa, Tatsuo

Publication type:

Article

Black Aortic Valve Stenosis Reveals a Rare Disorder of Tyrosine Metabolism.

Published in:

2018

By:

Diab, Nawras;
Zeh, Wolfgang;
Beyersdorf, h. c. Friedhelm

Publication type:

Case Study

Alkaptonuric Ochronosis; Hip Arthropathy - A Rare Case Treated with Total Hip Replacement.

Published in:

Firat Tip Dergisi, 2018, v. 23, n. 2, p. 100

By:

YETİŞ, Mehmet;
ÜNVEREN, Zafer;
UZUN, Erdal;
ÖZÇAMDALLI, Mustafa;
KIZKAPAN, Turan Bilge;
MISIR, Abdülhamit

Publication type:

Article

Diagnosis of Alkaptonuria after Lumbar Discectomy: Case Report and a Review of the Literatüre.

Published in:

2012

By:

DOLGUN, Habibullah;
GURER, Bora;
SARI, Riza Onur;
YILMAZ, Erdal Reşit;
SEKERCİ, Zeki

Publication type:

Case Study

Identification of forty cases with alkaptonuria in one village in Jordan.

Published in:

Rheumatology International, 2012, v. 32, n. 12, p. 3737, doi. 10.1007/s00296-011-2219-x

By:

Al-sbou, Mohammed;
Mwafi, Nesrin;
Lubad, Mohammad

Publication type:

Article

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

Published in:

Rheumatology International, 2012, v. 32, n. 6, p. 1741, doi. 10.1007/s00296-011-1868-0

By:

Al-sbou, Mohammed

Publication type:

Article

Nine cases of Alkaptonuria in one family in southern Jordan.

Published in:

Rheumatology International, 2012, v. 32, n. 3, p. 621, doi. 10.1007/s00296-010-1701-1

By:

Al-sbou, Mohammed;
Mwafi, Nesrin

Publication type:

Article

Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review.

Published in:

Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 6, p. 1, doi. 10.7860/JCDR/2018/35741.11629

By:

ZUBI, KHALID MOUSA AL;
ALSBOU, MOHAMMED SALEM;
ALKHASAWNEH, MAHMOUD HUSSEIN;
AL-SHAGAHIN, HANI MOSLEH

Publication type:

Article

Myocardial Infarction with Alkaptonuria: A Case Report.

Published in:

2018

By:

LAKSHMI, K. S.;
GOMATHY, R.;
ARUNDHATHI, S.;
PRATHIBHA, S.

Publication type:

Case Study

Neurological assessment and nerve conduction study findings in 22 patients with alkaptonuria from Jordan.

Published in:

Neurology International, 2016, v. 8, n. 4, p. 84, doi. 10.4081/ni.2016.6841

By:

Alrawashdeh, Omar;
Alsbou, Mohammad;
Alzoubi, Hamed;
Al-shagahin, Hani

Publication type:

Article

Alkaptonuria - Many questions answered, further challenges beckon.

Published in:

2020

By:

Davison, AS;
Hughes, AT;
Milan, AM;
Sireau, N;
Gallagher, JA;
Ranganath, LR;
Davison, A S;
Hughes, A T;
Milan, A M;
Gallagher, J A;
Ranganath, L R

Publication type:

journal article

Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.

Published in:

Annals of Clinical Biochemistry, 2015, v. 52, n. 5, p. 597, doi. 10.1177/0004563215571969

By:

Hughes, Andrew T.;
Milan, Anna M.;
Davison, Andrew S.;
Christensen, Peter;
Ross, Gordon;
Gallagher, James A.;
Dutton, John J.;
Ranganath, Lakshminarayan R.

Publication type:

Article

Lumbar disc herniation in a patient of alkaptonuria: Case report and review of literature.

Published in:

2012

By:

Krishnan, Prasad;
Roy Chowdhury, Siddhartha

Publication type:

Letter

Subchondral insufficiency fracture of the femoral head in a patient with alkaptonuria.

Published in:

Skeletal Radiology, 2014, v. 43, n. 6, p. 827, doi. 10.1007/s00256-013-1796-z

By:

Hamada, Takahiro;
Yamamoto, Takuaki;
Shida, Jun-ichi;
Inokuchi, Akihiko;
Arizono, Takeshi

Publication type:

Article

Osler's sign revisited.

Published in:

2015

By:

Kumar, Annapurna;
Karthikeyan, Kaliaperumal;
Vyas, Malhar T.

Publication type:

Case Study

Study of cytoskeleton from microscopic point of view: Our experience.

Published in:

Biocell, 2022, v. 46, n. 3, p. 881, doi. 10.32604/biocell.2022.018062

By:

SIGNORINI, CINZIA;
COLLODEL, GIULIA;
MORETTI, ELENA

Publication type:

Article

Alkaptonuria: A Case Report With Diagnostic Challenge.

Published in:

South Dakota Medicine, 2017, v. 70, n. 8, p. 366

By:

Gali, Vasantha L.;
Kerkvliet, Amy M.;
Kusmak, Jacob M.;
Elwood, Jana K.

Publication type:

Article

Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis.

Published in:

Connecticut Medicine, 2016, v. 80, n. 3, p. 139

By:

ROCA, BERNARDINO;
ROCA, MANUEL;
MONFERRER, RAQUEL

Publication type:

Article

ALKAPTONURIA DIAGNOSED IN A 72 YEAR OLD FEMALE AFTER TOTAL KNEE REPLACEMENT.

Published in:

BAU Journal - Health & Well-Being, 2023, v. 5, n. 2, p. 1, doi. 10.54729/2789-8288.1193

By:

Zaabout, Wael

Publication type:

Article

Prolapsed lumbar disc in alkaptonuria.

Published in:

Journal of Dr. NTR University of Health Sciences, 2016, v. 5, n. 1, p. 55, doi. 10.4103/2277-8632.178980

By:

Babu, Surapaneni Suresh;
Sudhakar, G.;
Sonylal, P. E.;
Sridevi, M. U. S. K.

Publication type:

Article

Alkaptonuria: a Presentation of Two Turkish Cases.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2012, v. 34, n. 2, p. 88, doi. 10.5152/etd.2012.22

By:

Kendirci, Mustafa;
Hatipoğlu, Nihal;
Kardaş, Fatih;
Sav, Melike Nadide

Publication type:

Article

Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient.

Published in:

Mediators of Inflammation, 2014, v. 2014, p. 1, doi. 10.1155/2014/258471

By:

Millucci, Lia;
Ghezzi, Lorenzo;
Paccagnini, Eugenio;
Giorgetti, Giovanna;
Viti, Cecilia;
Braconi, Daniela;
Laschi, Marcella;
Geminiani, Michela;
Soldani, Patrizia;
Lupetti, Pietro;
Orlandini, Maurizio;
Benvenuti, Chiara;
Perfetto, Federico;
Spreafico, Adriano;
Bernardini, Giulia;
Santucci, Annalisa

Publication type:

Article

Erbium-doped yttrium aluminium garnet ablative laser treatment for endogenous ochronosis.

Published in:

Australasian Journal of Dermatology, 2015, v. 56, n. 3, p. 212, doi. 10.1111/ajd.12199

By:

Chaptini, Cassandra;
Huilgol, Shyamala C

Publication type:

Article

SPONTANEOUS ACHILLES TENDON RUPTURE - A CASE OF OCHRONOSIS.

Published in:

Nitte University Journal of Health Science, 2013, v. 3, n. 3, p. 113

By:

Shetty, Sanath Kumar;
N. R., Raj Sankar;
P., Nirmal Babu;
Mathias, Lawrence J.;
Bhat, Shubha P.;
Rai, Ravindranath

Publication type:

Article

A rare disorder in an infant with Goldenhar syndrome and nephrolithiasis: Alkaptonuria.

Published in:

2016

By:

Alaygut, Demet;
Kılıç, Suar Çakı;
Ölmez, Meryem;
Gültekin, Asım;
İçağasıoğlu, Füsun Dilara

Publication type:

Case Study

Joint replacement associated with ochronosis in three cases, two were siblings.

Published in:

Cumhuriyet Medical Journal, 2016, v. 38, n. 2, p. 161, doi. 10.7197/cmj.v38i2.5000172856

By:

Deveci, Mustafa;
Çıraklı, Alper;
Uzun, Erdal;
Öncel, Eyyüp Sabri

Publication type:

Article

An unusual cause of chronic low back pain: ochronosis.

Published in:

2017

By:

Alaya, Zeineb;
Mzabi, Anis

Publication type:

Case Study

A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria.

Published in:

Clinical Rheumatology, 2016, v. 35, n. 7, p. 1849, doi. 10.1007/s10067-015-3091-y

By:

Mistry, J.;
Jackson, D.;
Bukhari, M.;
Taylor, A.

Publication type:

Article

Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review.

Published in:

Clinical Rheumatology, 2016, v. 35, n. 5, p. 1389, doi. 10.1007/s10067-014-2557-7

By:

Ventura-Ríos, L.;
Hernández-Díaz, C.;
Gutiérrez-Pérez, L.;
Bernal-González, A.;
Pichardo-Bahena, R.;
Cedeño-Garcidueñas, A.;
Pineda, C.

Publication type:

Article

Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria.

Published in:

Clinical Rheumatology, 2016, v. 35, n. 2, p. 513, doi. 10.1007/s10067-015-2983-1

By:

Mistry, J.;
Jackson, D.;
Bukhari, M.;
Taylor, A.

Publication type:

Article

Degenerative Arthritis of the Knee Secondary to Ochronosis.

Published in:

Bulletin of the NYU Hospital for Joint Diseases, 2011, v. 69, n. 4, p. 331

By:

Abimbola, Obafunto;
Hall, Greg;
Zuckerman, Joseph D.

Publication type:

Article

MACROSCOPIC ASPECTS IN ALKAPTONURIA COMPLICATED IN EVOLUTION WITH MYOCARDIAL INFARCTION AND CARDIAC TAMPONADE.

Published in:

Romanian Journal of Functional & Clinical, Macro & Microscopical Anatomy & of Anthropology / Revista Româna de Anatomie Functionala si Clinica, Macro si Microscopica si de Antropologie, 2017, v. 16, n. 4, p. 373

By:

Diac, Mădălina Maria;
David, Sofia;
Stan, C. I.;
Iliescu, Diana Bulgaru;
Knieling, A.;
Scripcaru, C.

Publication type:

Article

Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects.

Published in:

Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 3, p. e81, doi. 10.1515/cclm-2014-0668

By:

Davison, Andrew S.;
Milan, Anna M.;
Hughes, Andrew T.;
Dutton, John J.;
Ranganath, Lakshminarayan R.

Publication type:

Article

Black discolouration of urine in two young sisters.

Published in:: 2016
Publication type:: journal article

Black aorta in a patient with alkaptonuric ochronosis.

Published in:

2012

By:

Tosya, Alper;
Çoşkun, Pınar Köksal;
Uymaz, Barış;
Tarcan, Onurcan;
Aybek, Tayfun

Publication type:

Case Study

Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation.

Published in:

2018

By:

Freeman, Amanda R.;
Wills, Stephen M.

Publication type:

Case Study