Works matching DE "MEVALONATE kinase deficiency"

Results: 99

Periodic Fever Syndrome: A Case Study of Biofilm-Mediated Fever and Successful Treatment with Fibrinolytic Enzymes and Natural Antimicrobials.

Published in:

Nutritional Perspectives: Journal of the Council on Nutrition, 2022, v. 45, n. 2, p. 5

By:

Zodkoy, Steven

Publication type:

Article

Hyperimmunoglobulin D Syndrome Presenting with Volvulus Due to Abdominal Fibro-Inflammatory Bands.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 1, p. 109, doi. 10.5152/TurkArchPediatr.2022.22125

By:

Aslan, Muzaffer Kaan;
Cesur, Özkan;
Özcan, Ayşegül;
Avcı, Nihal;
Goncu, Sultan;
Saç, Rukiye Ünsal;
Sandal, Semih;
Cura Yayla, Burcu Ceylan;
Vezir, Emine;
Tasar, Medine Aysin;
Sağ, Erdal

Publication type:

Article

Mevalonate kinase deficiency/Hyperimmunoglobulin D syndrome (MVK/HIDS) in a Differential Diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Familial Mediterranean Fever (FMF): A Case Report.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 3, p. 365, doi. 10.5152/TurkArchPediatr.2022.21321

By:

Aktaş, Berkay;
Gümüş, Diyar;
Tunalı, Atacan;
Kunter, Ziya;
Adrovic, Amra

Publication type:

Article

Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 6, p. 707, doi. 10.1007/s00431-015-2505-9

By:

Kostjukovits, Svetlana;
Kalliokoski, Liisa;
Antila, Kaisu;
Korppi, Matti

Publication type:

Article

The Eurofever Project: towards better care for autoinflammatory diseases.

Published in:

2011

By:

Ozen, Seza;
Frenkel, Joost;
Ruperto, Nicola;
Gattorno, Marco;
Eurofever Project

Publication type:

journal article

Exploring the Significance of Immune Checkpoints and EBV Reactivation in Antibody Deficiencies with Near-Normal Immunoglobulin Levels or Hyperimmunoglobulinemia.

Published in:

Cancers, 2023, v. 15, n. 20, p. 5059, doi. 10.3390/cancers15205059

By:

Mertowska, Paulina;
Mertowski, Sebastian;
Smolak, Konrad;
Pasiarski, Marcin;
Smok-Kalwat, Jolanta;
Góźdź, Stanisław;
Grywalska, Ewelina

Publication type:

Article

Metformin Suppresses Cancer Stem Cells through AMPK Activation and Inhibition of Protein Prenylation of the Mevalonate Pathway in Colorectal Cancer.

Published in:

Cancers, 2020, v. 12, n. 9, p. 2554, doi. 10.3390/cancers12092554

By:

Seo, Yoojeong;
Kim, Janghyun;
Park, Soo Jung;
Park, Jae Jun;
Cheon, Jae Hee;
Kim, Won Ho;
Kim, Tae Il

Publication type:

Article

Natural history of mevalonate kinase deficiency: a literature review.

Published in:

Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0091-7

By:

Shumin Zhang

Publication type:

Article

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.

Published in:

Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0081-9

By:

Peciuliene, Skaiste;
Burnyte, Birute;
Gudaitiene, Rymanta;
Rusoniene, Skirmante;
Drazdiene, Nijole;
Liubsys, Arunas;
Utkus, Algirdas

Publication type:

Article

Metabolic control of YAP and TAZ by the mevalonate pathway.

Published in:

Nature Cell Biology, 2014, v. 16, n. 4, p. 357, doi. 10.1038/ncb2936

By:

Sorrentino, Giovanni;
Ruggeri, Naomi;
Specchia, Valeria;
Cordenonsi, Michelangelo;
Mano, Miguel;
Dupont, Sirio;
Manfrin, Andrea;
Ingallina, Eleonora;
Sommaggio, Roberta;
Piazza, Silvano;
Rosato, Antonio;
Piccolo, Stefano;
Del Sal, Giannino

Publication type:

Article

Autoinflammatory Diseases in Childhood.

Published in:

Balkan Medical Journal, 2020, v. 37, n. 5, p. 236, doi. 10.4274/balkanmedj.galenos.2020.2020.4.82

By:

Yıldız, Mehmet;
Haşlak, Fatih;
Adrovic, Amra;
Barut, Kenan;
Kasapçopur, Özgür

Publication type:

Article

Febrile Child and Fever without Focus.

Published in:

Iranian Journal of Medical Sciences, 2023, v. 48, n. 3, p. 352

By:

Sadeghi, Esmaeel

Publication type:

Article

Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.

Published in:

Journal of Postgraduate Medicine, 2015, v. 61, n. 2, p. 120, doi. 10.4103/0022-3859.153107

By:

Abdulla, M. C.;
Alungal, J.;
Hawkins, P. N.;
Mohammed, S.

Publication type:

Article

Autoinflammatory diseases with Kawasaki‐like onset: A case series.

Published in:

2023

By:

Gamalero, Lisa;
Giani, Teresa;
Ferrara, Giovanna;
Cimaz, Rolando

Publication type:

Case Study

Severe post-streptococcal acute glomerulonephritis and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome.

Published in:

Pediatrics International, 2013, v. 55, n. 2, p. 259, doi. 10.1111/ped.12077

By:

Chiba, Nao;
Watanabe, Shojiro;
Aizawa‐Yashiro, Tomomi;
Tsuruga, Kazushi;
Ito, Etsuro;
Oda, Takashi;
Joh, Kensuke;
Tanaka, Hiroshi

Publication type:

Article

A rare cause of steroid-resistant nephrotic syndrome in a child: Answers.

Published in:

2020

By:

Guliyeva, Lale;
Tabel, Yılmaz;
Düzova, Ali;
Akpolat, Nusret;
Özen, Seza;
Topaloğlu, Rezan;
Sözeri, Betül

Publication type:

Case Study

What's new in autoinflammation?

Published in:

Pediatric Nephrology, 2019, v. 34, n. 12, p. 2449, doi. 10.1007/s00467-018-4155-4

By:

Ozen, Seza

Publication type:

Article

Comments on Tașdemir et al.: A rare cause of AA amyloidosis and end-stage kidney failure.

Published in:

2019

By:

Galland, Joris;
Savey, Léa

Publication type:

Letter

Comments on the letter of Galland et al. on "A rare cause of AA amyloidosis and end-stage kidney failure".

Published in:

2019

By:

Taşdemir, Mehmet;
Yılmaz, Sezen;
Baba, Zeliha Füsun;
Bilge, Ilmay

Publication type:

Letter to the Editor

A rare cause of AA amyloidosis and end-stage kidney failure: Answers.

Published in:

Pediatric Nephrology, 2019, v. 34, n. 9, p. 1537, doi. 10.1007/s00467-018-4153-6

By:

Taşdemir, Mehmet;
Yılmaz, Sezen;
Baba, Zeliha Füsun;
Bilge, Ilmay

Publication type:

Article

A rare cause of AA amyloidosis and end-stage kidney failure: Questions.

Published in:

2019

By:

Taşdemir, Mehmet;
Yılmaz, Sezen;
Baba, Zeliha Füsun;
Bilge, Ilmay

Publication type:

Case Study

Geranylgeraniol (GGOH) as a Mevalonate Pathway Activator in the Rescue of Bone Cells Treated with Zoledronic Acid: An In Vitro Study.

Published in:

Stem Cells International, 2019, p. 1, doi. 10.1155/2019/4351327

By:

Fliefel, Riham M.;
Entekhabi, Saleh A.;
Ehrenfeld, Michael;
Otto, Sven

Publication type:

Article

Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2017, v. 41, n. 4, p. 1649, doi. 10.1159/000471235

By:

Tricarico, Paola Maura;
Romeo, Alessandra;
Gratton, Rossella;
Crovella, Sergio;
Celsi, Fulvio

Publication type:

Article

Knock-down of farnesyl pyrophosphate synthase protects heart-derived H9c2 cells against hypoxia/reoxygenation-induced injury.

Published in:

Cell Biology International, 2017, v. 41, n. 9, p. 982, doi. 10.1002/cbin.10795

By:

Dai, Dongpu;
Wu, Huandong;
Yang, Jian;
Shen, Shizhen;
Zhao, Chenze;
Ding, Jie;
Hu, Shenjiang

Publication type:

Article

Monogenic autoinflammatory disorders: beyond the periodic fever.

Published in:

Internal Medicine Journal, 2020, v. 50, n. 2, p. 151, doi. 10.1111/imj.14414

By:

Moghaddas, Fiona

Publication type:

Article

Hyper‐immunoglobulin D syndrome with novel mutations in an afebrile infant.

Published in:

2018

By:

Cadmus, Simi D.;
Green, Reid;
Levy, Moise L.;
Diaz, Lucia Z.;
Carrasco, Ruy

Publication type:

Case Study

Structural insight into substrate and product binding in an archaeal mevalonate kinase.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208419

By:

Miller, Bradley R.;
Kung, Yan

Publication type:

Article

An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.

Published in:

2019

By:

Federici, Silvia;
Vanoni, Federica;
Ben-Chetrit, Eldad;
Cantarini, Luca;
Frenkel, Joost;
Goldbach-Mansky, Raphaela;
Gul, Ahmet;
Hoffman, Hal;
Koné-Paut, Isabelle;
Kuemmerle-Deschner, Jasmin;
Lachmann, Helen J.;
Martini, Alberto;
Obici, Laura;
Ozen, Seza;
Simon, Anna;
Hofer, Michael;
Ruperto, Nicolino;
Gattorno, Marco;
for Eurofever and the Pediatric Rheumatology International Trials Organization (PRINTO);
Eurofever and the Pediatric Rheumatology International Trials Organization (PRINTO)

Publication type:

journal article

Caution should be used in the recognition of adult-onset autoinflammatory disorders: facts or fiction?

Published in:

Frontiers in Immunology, 2013, p. 1, doi. 10.3389/fimmu.2013.00096

By:

Cantarini, Luca;
Lucherini, Orso Maria;
Rigante, Donato

Publication type:

Article

The patient journey to diagnosis and treatment of autoinflammatory diseases.

Published in:

2018

By:

Hausmann, Jonathan S.;
Lomax, Kathleen G.;
Shapiro, Ari;
Durrant, Karen

Publication type:

journal article

PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.

Published in:

Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0705-z

By:

Maggio, Maria Cristina;
Ceccherini, Isabella;
Grossi, Alice;
Gattorno, Marco;
Corsello, Giovanni

Publication type:

Article

Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.

Published in:

Case Reports in Veterinary Medicine, 2017, p. 1, doi. 10.1155/2017/4275305

By:

Nyce, Jonathan W.

Publication type:

Article

Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.

Published in:

Case Reports in Pediatrics, 2018, p. 1, doi. 10.1155/2018/3514645

By:

Rafiq, Nadia K.;
Lachmann, Helen;
Joensen, Frodi;
Herlin, Troels;
Brogan, Paul A.

Publication type:

Article

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

Published in:

International Journal of Inflammation, 2018, p. 1, doi. 10.1155/2018/1902791

By:

Shahbaznejad, Leila;
Raeeskarami, Sayed-Reza;
Assari, Raheleh;
Shakoori, Abbas;
Azhideh, Hamidreza;
Aghighi, Yahya;
Tahghighi, Fatemeh;
Ziaee, Vahid

Publication type:

Article

Geranylgeraniol and Neurological Impairment: Involvement of Apoptosis and Mitochondrial Morphology.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 3, p. 365, doi. 10.3390/ijms17030365

By:

Marcuzzi, Annalisa;
Piscianz, Elisa;
Zweyer, Marina;
Bortul, Roberta;
Loganes, Claudia;
Girardelli, Martina;
Baj, Gabriele;
Monasta, Lorenzo;
Celeghini, Claudio

Publication type:

Article

Mevalonate Kinase Deficiency and Neuroinflammation: Balance between Apoptosis and Pyroptosis.

Published in:

International Journal of Molecular Sciences, 2013, v. 14, n. 12, p. 23274, doi. 10.3390/ijms141223274

By:

Tricarico, Paola Maura;
Marcuzzi, Annalisa;
Piscianz, Elisa;
Monasta, Lorenzo;
Crovella, Sergio;
Kleiner, Giulio

Publication type:

Article

MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.

Published in:

Rheumatology International, 2018, v. 38, n. 1, p. 121, doi. 10.1007/s00296-017-3890-3

By:

Mezzavilla, Massimo;
Moura, Ronald Rodrigues;
Celsi, Fulvio;
Tricarico, Paola Maura;
Crovella, Sergio

Publication type:

Article

Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.

Published in:

2016

By:

Nakashimai, Hideyuki;
Miyake, Fumihito;
Ohki, Shigeru;
Hattori, Seira;
Matsubayashi, Tadashi;
Izawa, Kazushi;
Nishikomori, Ryuta;
Heike, Toshio;
Honda, Yoshitaka;
Shigematsu, Yosuke

Publication type:

Letter

Massive ascites in a canakinumab resistant case with MVA leading to bone marrow transplantation.

Published in:

2016

By:

Erdol, Sahin;
Cekic, Sukru;
Kılıc, Suar;
Saglam, Halil;
Kılıc, Sara

Publication type:

Letter

GRID2 a novel gene possibly associated with mevalonate kinase deficiency.

Published in:

2015

By:

Moura, Ronald;
Tricarico, Paola;
Campos Coelho, Antonio;
Crovella, Sergio

Publication type:

Letter

'Hyper-IgD syndrome' or 'mevalonate kinase deficiency': an old syndrome needing a new name?

Published in:

2014

By:

Celsi, Fulvio;
Tommasini, Alberto;
Crovella, Sergio

Publication type:

Letter

Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.

Published in:

Rheumatology International, 2013, v. 33, n. 12, p. 3039, doi. 10.1007/s00296-012-2577-z

By:

Stabile, Achille;
Compagnone, Adele;
Napodano, Salvatore;
Raffaele, Carmela Gerarda Luana;
Patti, Maria;
Rigante, Donato

Publication type:

Article

Mevalonate Metabolism in Cancer Stemness and Trained Immunity.

Published in:

Frontiers in Oncology, 2018, p. N.PAG, doi. 10.3389/fonc.2018.00394

By:

Gruenbacher, Georg;
Thurnher, Martin

Publication type:

Article

Mevalonate kinase deficiency: current perspectives.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 101, doi. 10.2147/TACG.S93933

By:

Favier, Leslie A.;
Schulert, Grant S.

Publication type:

Article

Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report.

Published in:

2017

By:

Damian, Laura;
Fufezan, Otilia;
Farcău, Mihaela;
Tătar, Simona;
Lazăr, Călin;
Farcău, Dorin;
Damian, Laura Otilia;
Farcău, Dorin-Ioan

Publication type:

Case Study

Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Published in:

Archives of Rheumatology, 2023, v. 38, n. 2, p. 299, doi. 10.46497/ArchRheumatol.2023.9681

By:

Kışla Ekinci, Rabia Miray;
Anlaş, Özlem;
Özalp, Özge

Publication type:

Article

Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.

Published in:

Archives of Rheumatology, 2023, v. 38, n. 2, p. 238, doi. 10.46497/ArchRheumatol.2023.9468

By:

Yıldız, Fatih;
Dinkçi, Suzan;
Erken, Eren

Publication type:

Article

Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.

Published in:

Archives of Rheumatology, 2020, v. 35, n. 4, p. 627, doi. 10.46497/ArchRheumatol.2020.7798

By:

ÇAKAN, Mustafa;
AKTAY AYAZ, Nuray;
EROL ÇİPE, Funda;
GÜL KARADAĞ, Şerife

Publication type:

Article

The Influence of Concomitant Disorders on Disease Severity of Familial Mediterranean Fever in Children.

Published in:

Archives of Rheumatology, 2018, v. 33, n. 3, p. 282, doi. 10.5606/ArchRheumatol.2018.6488

By:

KIŞLA EKİNCİ, Rabia Miray;
BALCI, Sibel;
UFUK ALTINTAŞ, Derya;
YILMAZ, Mustafa

Publication type:

Article

Periodic Fever in Children: A Report of Three Unusual Cases.

Published in:

Journal of Comprehensive Pediatrics, 2023, v. 14, n. 2, p. 1, doi. 10.5812/compreped-130982

By:

Goel, Neha;
Kashyap, Vikas;
Saini, Isha;
Sharma, Shobha;
Singh, Amitabh

Publication type:

Article