Works about FANCONI syndrome

Results: 352

Nephrocalcinosis and Recurrent Hematuria in a boy with Lowe Syndrome: A Case Report.

Published in:

Caspian Journal of Pediatrics, 2024, v. 10, p. 1

By:

Sepahi, Mohsen Akhavan;
Sepahi, Mohammad Hossein Akhavan

Publication type:

Article

Tenofovir-Induced Fanconi Syndrome Associated with a Fragility Fracture of the Right Femoral Neck.

Published in:

Indian Journal of Nephrology, 2025, v. 35, n. 2, p. 1, doi. 10.25259/IJN_454_2024

By:

Singh, Lakhan;
Bharadwaj, Shivendu;
Singh, Gursimran;
Gupta, Isha

Publication type:

Article

Tenofovir induced Fanconi syndrome: A possible pharmacokinetic interaction.

Published in:

Indian Journal of Pharmacology, 2013, v. 45, n. 2, p. 191, doi. 10.4103/0253-7613.108319

By:

Kapadia, Jigar;
Shah, Samidh;
Desai, Chetna;
Desai, Mira;
Patel, Shivani;
Shah, Asha N.;
Dikshit, R. K.

Publication type:

Article

Fanconi Syndrome Due to Tenofovir Disoproxil Fumarate in a Patient with Chronic Hepatitis B Induced Cirrhosis: A Case Report.

Published in:

2024

By:

Khodabakhshi, Milad;
Pazooki, Behshad

Publication type:

Case Study

Transient Fanconi syndrome in Quarter horses.

Published in:

2014

By:

Ohmes, Cameon M.;
Davis, Elizabeth G.;
Beard, Laurie A.;
Vander Werf, Karie A.;
Bianco, Alex W.;
Giger, Urs

Publication type:

Case Study

Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi‐Bickel syndrome.

Published in:

Pediatric Diabetes, 2018, v. 19, n. 1, p. 180, doi. 10.1111/pedi.12531

By:

Bahíllo‐Curieses, María Pilar;
Garrote‐Molpeceres, Rebeca;
Miñambres‐Rodríguez, María;
del Real‐Llorente, M. Rosa;
Tobar‐Mideros, Cristina;
Rellán‐Rodríguez, Sara

Publication type:

Article

Dental findings in Brazilian patients with Fanconi syndrome.

Published in:

2016

By:

Ferreira, Shirlene B. P.;
Aquino, Sibele N.;
Pereira, Paula Cristina B.;
Simões e Silva, Ana Cristina;
Martelli‐Júnior, Hercílio

Publication type:

Case Study

Renal Transplantation in Patients with Cystinosis – A Case Series.

Published in:

Indian Journal of Transplantation, 2024, v. 18, n. 4, p. 436, doi. 10.4103/ijot.ijot_4_24

By:

Thiagarajan, Yashwanth Raj;
Kannabhiran, Dinesh;
Arumugham, Kanakaraj;
Ravichandran, Rajan

Publication type:

Article

Combined Alport syndrome, Klinefelter syndrome and Fanconi syndrome in a Chinese boy.

Published in:

Nephrology, 2023, v. 28, n. 5, p. 272, doi. 10.1111/nep.14152

By:

Zhang, Hongwen;
Wang, Fang;
Xiao, Huijie

Publication type:

Article

A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8872294

By:

Agakidou, Eleni;
Agakidis, Charalampos;
Kambouris, Marios;
Printza, Nicoleta;
Farini, Maria;
Vourda, Elina;
Gerou, Spyridon;
Sarafidis, Kosmas

Publication type:

Article

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.

Published in:

2016

By:

Jackson, C.;
Bauer, M.;
Schaller, A.;
Kotzaeridou, U.;
Ferrarini, A.;
Hahn, D.;
Chehade, H.;
Barbey, F.;
Tran, C.;
Gallati, S.;
Haeberli, A.;
Eggimann, S.;
Bonafé, L.;
Nuoffer, J-M.;
Jackson, C B;
Bauer, M F;
Bonafé, L

Publication type:

journal article

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 4, p. 557, doi. 10.1007/s00431-012-1798-1

By:

Tzoufi, Meropi;
Makis, Alexandros;
Chaliasos, Nikolaos;
Nakou, Iliada;
Siomou, Ekaterini;
Tsatsoulis, Agathoklis;
Zikou, Anastasia;
Argyropoulou, Maria;
Bonnefont, Jean;
Siamopoulou, Antigone

Publication type:

Article

Sjögren's Syndrome Associated with Fanconi's Syndrome and Osteomalacia.

Published in:

2018

By:

Gutierrez, Jorge O.;
Zurita, Maria F.;
Zurita, Luis A.

Publication type:

Case Study

A New Multi-Color FISH Assay for Brush Biopsy-Based Detection of Chromosomal Aneuploidy in Oral (Pre)Cancer in Patients with Fanconi Anemia.

Published in:

Cancers, 2022, v. 14, n. 14, p. N.PAG, doi. 10.3390/cancers14143468

By:

Silva de Araujo, Bruno Eduardo;
Markgraf, Mona;
de Santana Almeida Araujo, Isabela Karoline;
Velleuer, Eunike;
Dietrich, Ralf;
Pomjanski, Natalia;
Schramm, Martin

Publication type:

Article

PFKFB3 Inhibition Sensitizes DNA Crosslinking Chemotherapies by Suppressing Fanconi Anemia Repair.

Published in:

Cancers, 2021, v. 13, n. 14, p. 3604, doi. 10.3390/cancers13143604

By:

Ninou, Anna Huguet;
Lehto, Jemina;
Chioureas, Dimitrios;
Stigsdotter, Hannah;
Schelzig, Korbinian;
Åkerlund, Emma;
Gudoityte, Greta;
Joneborg, Ulrika;
Carlson, Joseph;
Jonkers, Jos;
Seashore-Ludlow, Brinton;
Gustafsson, Nina Marie Susanne

Publication type:

Article

Targeting CX3CR1 Suppresses the Fanconi Anemia DNA Repair Pathway and Synergizes with Platinum.

Published in:

Cancers, 2021, v. 13, n. 6, p. 1442, doi. 10.3390/cancers13061442

By:

Lehto, Jemina;
Huguet Ninou, Anna;
Chioureas, Dimitrios;
Jonkers, Jos;
Gustafsson, Nina M. S.;
Girard, Pierre-Marie

Publication type:

Article

Canonical and Noncanonical Roles of Fanconi Anemia Proteins: Implications in Cancer Predisposition.

Published in:

Cancers, 2020, v. 12, n. 9, p. 2684, doi. 10.3390/cancers12092684

By:

Milletti, Giacomo;
Strocchio, Luisa;
Pagliara, Daria;
Girardi, Katia;
Carta, Roberto;
Mastronuzzi, Angela;
Locatelli, Franco;
Nazio, Francesca

Publication type:

Article

Fanconi's syndrome and distal renal tubular acidosis after glue sniffing.

Published in:

1980

By:

Moss, Alvin H.;
Gabow, Patricia A.;
Kaehny, William D.;
Goodman, Stephen I.;
Haut, Lewis L.;
Moss, A H;
Gabow, P A;
Kaehny, W D;
Goodman, S I;
Haut, L L

Publication type:

journal article

Renal amyloidosis, nephrotic syndrome, and impaired renal tubular reabsorption of bicarbonate.

Published in:

1968

By:

Sebastian, Anthony;
McSherry, Elisabeth;
Ueri, Iris;
Morris Jr., R. Curtis;
Sebastian, A;
McSherry, E;
Ueki, I;
Morris, R C Jr

Publication type:

journal article

Microphthalmos, orbital cyst, and missing thumbs: A rare case report.

Published in:

Oman Journal of Ophthalmology, 2015, v. 8, n. 3, p. 194, doi. 10.4103/0974-620X.169901

By:

Afghani, Tayyab;
Mansoor, Hassan;
Shehzad, Waseem

Publication type:

Article

HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature.

Published in:

2018

By:

Liu, Jiaojiao;
Shen, Qian;
Li, Guomin;
Xu, Hong

Publication type:

journal article

Incidence of proximal renal tubular dysfunction in patients on tenofovir disoproxil fumarate.

Published in:

International Journal of STD & AIDS, 2010, v. 21, n. 2, p. 150, doi. 10.1258/ijsa.2009.009464

By:

Quinn, K. J.;
Emerson, C. R.;
Dinsmore, W. W.;
Donnelly, C. M.

Publication type:

Article

Proteinuria in a 6‐year‐old girl with Wilson disease: Lessons learnt.

Published in:

Journal of Paediatrics & Child Health, 2022, v. 58, n. 9, p. 1685, doi. 10.1111/jpc.15936

By:

Narayan, Aditya;
Karunakar, Pediredla;
Krishnamurthy, Sriram;
Deepthi, Bobbity;
Srinivas, Bheemanathi H

Publication type:

Article

Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency.

Published in:

2012

By:

Jurecka, Agnieszka;
Opoka-Winiarska, Violetta;
Rokicki, Dariusz;
Tylki-Szymańska, Anna

Publication type:

Case Study

Issue Information.

Published in:: Journal of Veterinary Internal Medicine, 2017, v. 31, n. 2, p. 273, doi. 10.1111/jvim.14581
Publication type:: Article

Aminoaciduria Caused by Fanconi Syndrome in a Heifer.

Published in:

Journal of Veterinary Internal Medicine, 2017, v. 31, n. 2, p. 598, doi. 10.1111/jvim.14605

By:

Cesbron, N.;
Dorso, L.;
Royer, A. ‐ L.;
Dervilly ‐ Pinel, G.;
Hervé, J.

Publication type:

Article

Acquired Proximal Renal Tubular Dysfunction in 9 Labrador Retrievers with Copper-Associated Hepatitis (2006-2012).

Published in:

Journal of Veterinary Internal Medicine, 2013, v. 27, n. 3, p. 491, doi. 10.1111/jvim.12065

By:

Langlois, D.K.;
Smedley, R.C.;
Schall, W.D.;
Kruger, J.M.

Publication type:

Article

Renal function in pediatric liver transplant patients.

Published in:

Kidney International Supplement, 1996, n. 53, p. S-77

By:

MCDIARMID, SUE V.

Publication type:

Article

The reduced expression of proximal tubular transporters in acquired Fanconi syndrome with κ light chain deposition.

Published in:

Medical Molecular Morphology, 2016, v. 49, n. 1, p. 48, doi. 10.1007/s00795-015-0114-3

By:

Tojo, Akihiro;
Asaba, Kensuke;
Kinugasa, Satoshi;
Ikeda, Yoichiro;
Shintani, Yukako;
Fukayama, Masashi;
Nangaku, Masaomi

Publication type:

Article

Pattern of hereditary renal tubular disorders in Egyptian children.

Published in:

Turkish Journal of Pediatrics, 2023, v. 65, n. 4, p. 611, doi. 10.24953/turkjped.2022.688

By:

Osman, Mohamed A. M.;
Abd-Elrehim, Ghada A. B.;
Abdelkreem, Elsayed;
Abosdera, Mostafa M.;
Kassem, Mohamed A.

Publication type:

Article

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.

Published in:

2021

By:

Duan, Nan;
Huang, Chenwei;
Pang, Lu;
Jiang, Shiju;
Yang, Wenshuang;
Li, Haixia

Publication type:

journal article

Severe hypocalcemia after denosumab in a patient with acquired Fanconi syndrome.

Published in:

Osteoporosis International, 2014, v. 25, n. 3, p. 1187, doi. 10.1007/s00198-013-2533-0

By:

Shafqat, H.;
Alquadan, K.;
Olszewski, A.

Publication type:

Article

Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.

Published in:

Journal of Bone & Mineral Metabolism, 2024, v. 42, n. 2, p. 155, doi. 10.1007/s00774-023-01490-3

By:

Ragate, Divya C.;
Memon, Saba Samad;
Karlekar, Manjiri;
Lila, Anurag Ranjan;
Sarathi, Vijaya;
Jamale, Tukaram;
Thakare, Sayali;
Patil, Virendra A.;
Shah, Nalini S.;
Bandgar, Tushar R.

Publication type:

Article

Performance evaluation of the new chemiluminescent intact FGF23 assay relative to the existing assay system.

Published in:

Journal of Bone & Mineral Metabolism, 2022, v. 40, n. 1, p. 101, doi. 10.1007/s00774-021-01258-7

By:

Kato, Hajime;
Hidaka, Naoko;
Koga, Minae;
Ogawa, Noriyuki;
Takahashi, Shichihiro;
Miyazaki, Hiromi;
Nangaku, Masaomi;
Makita, Noriko;
Ito, Nobuaki

Publication type:

Article

Long-term kidney function of Lowe syndrome: a nationwide study of paediatric and adult patients.

Published in:

Nephrology Dialysis Transplantation, 2024, v. 39, n. 8, p. 1360, doi. 10.1093/ndt/gfae080

By:

Ando, Taro;
Miura, Kenichiro;
Yabuuchi, Tomoo;
Shirai, Yoko;
Ishizuka, Kiyonobu;
Kanda, Shoichiro;
Harita, Yutaka;
Hirasawa, Kyoko;
Hamada, Riku;
Ishikura, Kenji;
Inoue, Eisuke;
Hattori, Motoshi

Publication type:

Article

Understanding and managing hypercalciuria in adults with nephrolithiasis: keys for nephrologists.

Published in:

Nephrology Dialysis Transplantation, 2020, v. 35, n. 4, p. 573, doi. 10.1093/ndt/gfz099

By:

Figueres, Lucile;
Hourmant, Maryvonne;
Lemoine, Sandrine

Publication type:

Article

Renal monocyte chemoattractant protein-1: an emerging universal biomarker and therapeutic target for kidney diseases?

Published in:

Nephrology Dialysis Transplantation, 2020, v. 35, n. 2, p. 198, doi. 10.1093/ndt/gfz082

By:

Tam, Frederick W K;
Ong, Albert C M

Publication type:

Article

Renal Fanconi syndrome: taking a proximal look at the nephron.

Published in:

Nephrology Dialysis Transplantation, 2015, v. 30, n. 9, p. 1456, doi. 10.1093/ndt/gfu377

By:

Klootwijk, Enriko D.;
Reichold, Markus;
Unwin, Robert J.;
Kleta, Robert;
Warth, Richard;
Bockenhauer, Detlef

Publication type:

Article

Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi–Bickel syndrome: new pathophysiology insights.

Published in:

Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv113, doi. 10.1093/ndt/gfu018

By:

Mihout, Fabrice;
Devuyst, Olivier;
Bensman, Albert;
Brocheriou, Isabelle;
Ridel, Christophe;
Wagner, Carsten A.;
Mohebbi, Nilufar;
Boffa, Jean-Jacques;
Plaisier, Emmanuelle;
Ronco, Pierre

Publication type:

Article

Nephropathic cystinosis: an international consensus document.

Published in:

Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090

By:

Emma, Francesco;
Nesterova, Galina;
Langman, Craig;
Labbé, Antoine;
Cherqui, Stephanie;
Goodyer, Paul;
Janssen, Mirian C.;
Greco, Marcella;
Topaloglu, Rezan;
Elenberg, Ewa;
Dohil, Ranjan;
Trauner, Doris;
Antignac, Corinne;
Cochat, Pierre;
Kaskel, Frederick;
Servais, Aude;
Wühl, Elke;
Niaudet, Patrick;
Van't Hoff, William;
Gahl, William

Publication type:

Article

Specific impairment of proximal tubular cell proliferation by a monoclonal κ light chain responsible for Fanconi syndrome†.

Published in:

Nephrology Dialysis Transplantation, 2012, v. 27, n. 12, p. 4368, doi. 10.1093/ndt/gfs261

By:

El Hamel, Chahrazed;
Aldigier, Jean-Claude;
Oblet, Christelle;
Laffleur, Brice;
Bridoux, Frank;
Cogné, Michel

Publication type:

Article

From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective.

Published in:

Kidney Diseases, 2024, v. 10, n. 2, p. 153, doi. 10.1159/000536423

By:

Li, Jiaying;
Hou, Fangxing;
Lv, Ning;
Zhao, Ruohuan;
Zhang, Lei;
Yue, Cai;
Nie, Min;
Chen, Limeng

Publication type:

Article

Prolonged adefovir therapy associated Fanconi syndrome and interstitial nephritis in hepatitis B.

Published in:

Internal Medicine Journal, 2012, v. 42, n. 8, p. 955, doi. 10.1111/j.1445-5994.2012.02854.x

By:

Dai, C. L.;
Zhu, M.;
Wang, B. P.;
Guo, F.;
Zhang, X.;
Song, W. Z.;
Zhu, T. H.;
Wang, B. L.;
Qiu, M. C.

Publication type:

Article

Urinary liver-type fatty acid-binding protein in two dogs with acquired Fanconi syndrome: A case report.

Published in:

Open Veterinary Journal, 2022, v. 12, n. 6, p. 864, doi. 10.5455/OVJ.2022.v12.i6.12

By:

Satoshi Takashima;
Tomomi Nasu;
Keiichi Ohata;
Tsuyoshi Oikawa;
Takeshi Sugaya;
Yui Kobatake;
Sanae Shibata;
Naohito Nishii

Publication type:

Article

Diagnostic accuracy of 99mTc-HYNIC-TOC SPECT/CT for detecting osteomalacia-associated tumors.

Published in:

Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1228575

By:

Bo Li;
Lili Duan;
Xiali Li;
Jingqi Shi;
Huiqiang Li;
Huimin Liu;
Xiaoliang Cheng;
Xinyu Wu;
Yongju Gao

Publication type:

Article

Drug-induced Fanconi syndrome in patients with kidney allograft transplantation.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 01, doi. 10.3389/fimmu.2022.979983

By:

Zhouqi Tang;
Tengfang Li;
Helong Dai;
Chen Feng;
Xubiao Xie;
Fenghua Peng;
Gongbin Lan;
Shaojie Yu;
Yu Wang;
Chunhua Fang;
Manhua Nie;
Xiaoqiong Yuan;
Xiaotian Tang;
Xin Jiang;
Xuejing Zhu;
Yuxi Fan;
Jiawei Peng;
Siyu Sun;
Mingda Zhong;
Hedong Zhang

Publication type:

Article

Fanconi anaemia.

Published in:

Nursing Children & Young People, 2017, v. 29, n. 1, p. 17, doi. 10.7748/ncyp.29.1.17.s18

By:

Crawford, Doreen;
Dearmun, Annette

Publication type:

Article

Two cases of reversible Fanconi syndrome induced by lenalidomide.

Published in:

2019

By:

Wesner, Nadège;
Bihan, Kevin;
Cez, Alexandre;
Simon, Laurence;
Biour, Michel;
Roos-Weil, Damien;
Baron, Marine

Publication type:

Letter

A single-center case series of eight patients with the rare plasma cell dyscrasia of acquired Fanconi syndrome secondary to monoclonal gammopathy.

Published in:

Leukemia & Lymphoma, 2015, v. 56, n. 11, p. 3124, doi. 10.3109/10428194.2015.1025392

By:

Liu, Yang;
Zhu, Tienan;
Xu, Lingling;
Qin, Yan;
Zhuang, Junling

Publication type:

Article

Comparison of 18F‐FDG PET/CT and 68Ga‐DOTATATE PET/CT in the Targeted Imaging of Culprit Tumors Causing Osteomalacia.

Published in:

Orthopaedic Surgery, 2021, v. 13, n. 3, p. 791, doi. 10.1111/os.12980

By:

Yu, Hao‐nan;
Liu, Ling;
Chen, Qiu‐song;
He, Qing;
Li, Yan‐sheng;
Wang, Ying;
Gao, Shuo

Publication type:

Article