Works about RARE diseases

Results: 5000

Rare Presentation of Monkeypox: Initial Tonsillitis Symptoms Leading to Diagnostic Challenges.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 8, p. 475, doi. 10.1177/01455613241260769

By:

Huang, Chien-Wei;
Liao, Jyun-Yi;
Lin, Sheng-Chiao

Publication type:

Article

Multiple Oncocytomas of Bilateral Parotid Glands: A Case Report.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 8, p. NP474, doi. 10.1177/01455613221133227

By:

Aydin, Fahri;
Ayyildiz, Veysel;
Gozgec, Elif;
Koksal, Ali;
Ogul, Hayri;
Kantarci, Mecit

Publication type:

Article

A rare case of an isolated left-sided partial anomalous pulmonary venous connection, diagnosed with transthoracic echocardiography in an adult patient.

Published in:

Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 6, p. 777, doi. 10.33963/v.phj.105318

By:

Żydzik, Łukasz;
Bednarski, Adam;
Bednarek, Agnieszka;
Chyrchel, Bernadeta;
Wojciechowska, Wiktoria;
Rajzer, Marek

Publication type:

Article

Myocardial changes in strain imaging during long-term follow-up of cardiac sarcoidosis.

Published in:

Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 6, p. 770, doi. 10.33963/v.phj.105222

By:

Jankowska, Hanna;
Dorniak, Karolina;
Pajkowski, Marcin;
Dubaniewicz, Anna;
Hellmann, Marcin

Publication type:

Article

Jak pacientka a neurologové dokázali zvítězit nad chronickou formou cluster headache - případ z naší praxe.

Published in:

Neurologie Pro Praxi, 2025, v. 26, n. 3, p. 249, doi. 10.36290/neu.2025.008

By:

Kavrakov, Evgeni

Publication type:

Article

Rare in prevalence, but common in needs: Supportive needs of parents caring for a child with rare disease.

Published in:

Paediatria Croatica, 2025, v. 69, n. 2, p. 99, doi. 10.13112/pc.1033

By:

Bulić, Dajana;
Matijaš, Tena;
Katušić, Ana

Publication type:

Article

Importance of telemedicine in rare diseases: a response to: shortage and distribution of autoimmune bullous disease providers in the United States: a cross-sectional analysis.

Published in:

Archives of Dermatological Research, 2025, v. 317, n. 1, p. 1, doi. 10.1007/s00403-025-04323-7

By:

Schundler, Sabrina F.;
Amber, Kyle T.

Publication type:

Article

Rare diseases: a comprehensive literature review and future directions.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00099-6

By:

Chaudhary, Aryan;
Kumar, Vidyapati

Publication type:

Article

Tracheal Duplication Cyst Coexisting with Tracheoesophageal Fistula in a Neonate – An Intraoperative Surprise.

Published in:

Journal of Indian Association of Pediatric Surgeons, 2025, v. 30, n. 4, p. 547, doi. 10.4103/jiaps.jiaps_48_25

By:

Aithal, Shrilakshmi;
Jadhav, Avinash;
Nayak, Shubhalaxmi;
Pathak, Manish;
Sinha, Arvind

Publication type:

Article

Giant Lipofibromatosis Over Back Mimicking Thoracic Lipomyelomeningocele in Paediatric Age Group: Case Report and Review of Literature.

Published in:

Journal of Indian Association of Pediatric Surgeons, 2025, v. 30, n. 4, p. 532, doi. 10.4103/jiaps.jiaps_3_25

By:

Bachala, Keerthana;
Sinha, Amit Kumar;
Kumar, Amit;
Dudhani, Shreyas;
Shandilya, Gaurav

Publication type:

Article

Maladies rares en France : organisation et enjeux en hépato-gastro-entérologie.

Published in:

2025

By:

Plessier, Aurélie;
de Lonlay, Pascale;
Gottrand, Frédéric;
Gonzales, Emmanuel

Publication type:

Editorial

Sino‐nasal lymphoma.

Published in:

Equine Veterinary Education, 2025, v. 37, n. 8, p. 400, doi. 10.1111/eve.14127

By:

Hollis, A. R.

Publication type:

Article

Nadir Görülen NGLY1 Gen Mutasyonu: Konjenital Deglikozilasyon-1 Defekti ile İlişkili Gelişimsel Gerilik ve Multisistem Tutulumu Olan Bir Olgu.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 107

By:

Genç, Yağmur Akcaoğlu;
Akar, Halil Tuna;
Bayram, Ayşe Kaçar

Publication type:

Article

Eş Zamanlı Ailesel Akdeniz Ateşi ve Henoch Schönlein Purpurası Tanısı Alan Bir Olgu.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 92

By:

Cücan, Hamdi;
Akınal, Beste;
Sarısoy, Doğacan;
Aydın, Fatma;
Özçakar, Zeynep Birsin

Publication type:

Article

Currarino Sendromu Ön Tanısıyla Takip Edilen Bir Yenidoğan Olgusu.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 92

By:

Kılınç, Ceren;
Kaymaz, Doğan;
Evin, Ege;
Ergün, Bilgesu Arıkan;
Bayatlı, Eyüp;
Ergün, Ergun;
Mutlu, Hatice;
Erdeve, Emel Okulu2,Ömer;
Atasay, Fatma Begüm;
Kınık, Hüseyin Hakan;
Arsan, Saadet

Publication type:

Article

A Hypergraph powered approach to Phenotype-driven Gene Prioritization and Rare Disease Prediction.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-04428-z

By:

Natarajan, Shrinithi;
Kundapuram, Niveditha;
Bhaskar, Nisarga;
Policharla, Sai Sailaja;
Das, Bhaskarjyoti

Publication type:

Article

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00500-9

By:

Fernández-Suárez, Elena;
González-del Pozo, María;
Méndez-Vidal, Cristina;
Martín-Sánchez, Marta;
Mena, Marcela;
García-Nuñez, Alejandro;
Bravo-Gil, Nereida;
Morillo-Sánchez, María José;
Rodríguez-de la Rúa, Enrique;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

Article

Looking for a needle in a haystack: a case study of rare disease care in neonatology.

Published in:

Journal of Perinatal Medicine, 2025, v. 53, n. 6, p. 733, doi. 10.1515/jpm-2025-0090

By:

Czaplińska, Natalia;
Kociszewka-Najman, Bozena;
Kosiński, Przemyslaw;
Stanojević, Milan

Publication type:

Article

Malignant glomus tumor: a rare case with an ultrastructural study.

Published in:

Ultrastructural Pathology, 2025, v. 49, n. 4, p. 391, doi. 10.1080/01913123.2025.2499140

By:

Guillermo Ernesto, Corredor-Alonso;
Pedro, Arredondo-Ruiz;
Jorge Luis, Martinez-Tlahuel;
Hugo Ricardo, Dominguez-Malagon

Publication type:

Article

Crowdsourcing Compassion: Humane AI and the Rise of Patient-Led Discovery.

Published in:

CyberPsychology, Behavior & Social Networking, 2025, v. 28, n. 7, p. 454, doi. 10.1089/cyber.2025.0203

By:

Wiederhold, Brenda K.

Publication type:

Article

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03666-8

By:

Vallejo, Michael;
Villarreal, Valentina;
Guardiola, María Alejandra;
Bachiller, William;
Moreno, Malory;
Vargas, Pedro;
López, Lyssethe Juliana

Publication type:

Article

Cutaneous Leishmaniasis: A Rare Cause of Perichondritis.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 4, p. 221, doi. 10.4103/ijd.ijd_272_24

By:

Acar, Ayda;
Oraloğlu, Göktürk;
Ulusoy, Fatmagül Dirican;
Akalın, Taner;
Töz, Seray;
Türk, Bengü Gerçeker

Publication type:

Article

Pediatric Schamberg's Disease: A Rare Clinical Entity.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 4, p. 213, doi. 10.4103/ijd.ijd_453_23

By:

Saini, Poonam;
Kansal, Naveen Kumar;
Durgapal, Prashant

Publication type:

Article

Atypical Presentation of Palisaded Neutrophilic Granulomatous Dermatitis.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 4, p. 209, doi. 10.4103/ijd.ijd_352_24

By:

Mannu, Anand;
Vasudevan, Biju;
Krishnan, Lekshmipriya;
Kashif, Ahmed Waheed;
Das, Pankaj;
Mishra, Sushmita

Publication type:

Article

Повний генітальний пролапс, ускладнений гострим порушенням функції тазових органів (клінічний випадок).

Published in:

Reproductive Health of Woman, 2025, v. 82, n. 3, p. 71, doi. 10.30841/2708-8731.3.2025.331533

By:

Голяновський, О. В.;
Тимків, У. М.;
Клюзко, І. В.;
Губар, І. А.;
Лучицька, І. М.;
Островець, К. С.;
Кузьмук, Л. П.

Publication type:

Article

Beyond the Broken Heart: Unusual Triggers of Stress Cardiomyopathy – A Narrative Review.

Published in:

Heart & Mind, 2025, v. 9, n. 3, p. 215, doi. 10.4103/hm.HM-D-24-00114

By:

Cacciapuoti, Fulvio;
Capone, Valentina;
Crispo, Salvatore;
Gottilla, Rossella;
Rocca, Fulvio La;
Esposito, Mafalda;
Mauro, Ciro

Publication type:

Article

Developing a standard dataset in the European registries for rare endocrine and bone conditions—a Melorheostosis dataset.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03862-6

By:

Appelman-Dijkstra, Natasha M.;
Cherenko, Mariya;
Clunie, Gavin P. R.;
Funck-Brentano, Thomas;
Grasemann, Corinna;
Raimann, Adalbert;
Lems, Willem F.;
Cohen-Solal, Martine

Publication type:

Article

Research trends and hotspots of adult Alagille syndrome: a bibliometric analysis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03855-5

By:

Liu, Qing;
Yang, Jie;
Liu, Wentian;
Sun, Chao

Publication type:

Article

Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03838-6

By:

Claessens, Zilke;
Vanneste, Alice;
Van Isterdael, Charlotte;
Verbeke, Charlotte;
Wens, Io;
Huys, Isabelle

Publication type:

Article

Transcending the burden: exploring the psychosocial impact of rare diseases on affected communities in Africa.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00085-y

By:

Okesanya, Olalekan John;
Manirambona, Emery;
Edu, Edet;
Shomuyiwa, Deborah Oluwaseun;
Ahmed, Mohamed Mustaf;
Ukoaka, Bonaventure Michael;
Eliseo III, Don Lucero-Prisno

Publication type:

Article

Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 47, doi. 10.3390/ijns11020047

By:

Zhi, Haijuan;
Chang, Siyu;
Chen, Ting;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022–2023).

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 43, doi. 10.3390/ijns11020043

By:

Vardosanidze, Nino;
Kavlashvili, Nani;
Margvelashvili, Lali;
Kvlividze, Oleg;
Diakonidze, Mikheil;
Iordanishvili, Saba;
Agladze, Dodo

Publication type:

Article

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 31, doi. 10.3390/ijns11020031

By:

Berardo, Clarissa;
Vasco, Alessandra;
Mauri, Alessia;
Lucchi, Simona;
Cappelletti, Laura;
Saielli, Laura;
Rizzetto, Manuela;
Biganzoli, Davide;
Montrasio, Cristina;
Postorivo, Diana;
Pratiffi, Elisa;
Meta, Andrea;
Carelli, Stephana;
Amorosi, Alessandro;
Paci, Sabrina;
Cefalo, Graziella;
Furlan, Francesca;
Menni, Francesca;
Gasperini, Serena;
Crescitelli, Viola

Publication type:

Article

Valve-in-Valve Repair in a Critically Ill Obstetric Patient with Severe Pulmonary Stenosis: A Rare Case.

Published in:

Healthcare (2227-9032), 2025, v. 13, n. 12, p. 1361, doi. 10.3390/healthcare13121361

By:

Pfeiffer, Alixandria F.;
Young, Hadley;
Zarudskaya, Oxana;
Doyle, Nora;
Rizvi, Syed A. A.

Publication type:

Article

Cyclosporine-induced Myopathy in a Liver Transplant Recipient with Acute Kidney Injury.

Published in:

2025

By:

Ramteke, Vishal;
Gulhane, Amit;
Narkhede, Rajvilas;
Deshmukh, Mahesh

Publication type:

Letter

An Uncommon Instance of Squamous Cell Carcinoma of the Buccal Mucosa in a Kidney Transplant Recipient.

Published in:

Indian Journal of Transplantation, 2025, v. 19, n. 2, p. 262, doi. 10.4103/ijot.ijot_152_24

By:

Sharma, Hardik;
Thakur, Vandana;
Thakur, Anupam

Publication type:

Article

Renal Paratransplant Hernia: A Rare Complication of Renal Transplantation.

Published in:

Indian Journal of Transplantation, 2025, v. 19, n. 2, p. 259, doi. 10.4103/ijot.ijot_130_24

By:

Vinayak, Kunal;
Mukhopadhyay, Abhinandan;
Mishra, Shivam;
Mittal, Varun

Publication type:

Article

Donor-derived ALECT2 Amyloidosis in a Transplant Allograft: A Rare Scenario.

Published in:

Indian Journal of Transplantation, 2025, v. 19, n. 2, p. 234, doi. 10.4103/ijot.ijot_95_24

By:

Agrawal, Kanupriya;
Meena, Mahendra;
Agarwal, Arjun;
Gupta, Rakesh;
Agarwal, Dhananjai

Publication type:

Article

Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 12, p. 5558, doi. 10.3390/ijms26125558

By:

Jauss, Robin-Tobias;
Lemke, Johannes R.;
Strehlow, Vincent

Publication type:

Article

Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0326372

By:

Hahn, Philipp;
Lechner, Werner;
Siefen, Rainer-Georg;
Lampe, Christina;
Nordbeck, Peter;
Grigull, Lorenz;
Lücke, Thomas

Publication type:

Article

Structure, Process and Outcome Evaluation of Central Public Health Laboratory Performance About Neonatal Screening Program in Karbala in 2022.

Published in:

University of Thi-Qar Journal of Science, 2023, v. 10, p. 38, doi. 10.32792/utq/utjsci/v10i1(SI).962

By:

Mohammed, Dunia Fawaz;
Thuwaini, Mahdi Murshd;
Abed, Alaa Hussein

Publication type:

Article

Low-density lipoprotein apheresis shows a rapid response to proteinuria due to C3 glomerulonephritis: a case report and literature review.

Published in:

Renal Replacement Therapy, 2025, v. 11, n. 1, p. 1, doi. 10.1186/s41100-025-00650-7

By:

Matsumura, Hideki;
Fujii, Yuko;
Tanaka, Tomoko;
Kagitani, Maki;
Ashida, Akira

Publication type:

Article

Psychosocial Factors Involved in Genetic Testing for Rare Diseases: A Scoping Review.

Published in:

Genes, 2025, v. 16, n. 6, p. 614, doi. 10.3390/genes16060614

By:

Strasser, Samantha;
McDonald, Isabella R.;
Uveges, Melissa K.;
Hesse-Biber, Sharlene;
Keels, Jordan;
Smith, Neil;
Dwyer, Andrew A.

Publication type:

Article

Cirrhotic ascites masquerading as haemoperitoneum in paediatric trauma: The diagnostic dilemma.

Published in:

2023

By:

Lavigne, Jordan M;
Thompson, Richard J;
Short, Melissa

Publication type:

Letter to the Editor

What can be done to improve diagnosis of aortic dissection?

Published in:

Emergency Medicine Australasia, 2023, v. 35, n. 1, p. 176, doi. 10.1111/1742-6723.14127

By:

KELLY, Anne-Maree;
Xiu Qing LEE;
CURRAN, Justin

Publication type:

Article

Sengstaken–Blakemore tube in critical upper gastrointestinal bleeding: Implications for aeromedical retrieval.

Published in:

Emergency Medicine Australasia, 2022, v. 34, n. 4, p. 648, doi. 10.1111/1742-6723.14007

By:

Latona, Akmez;
Chao, Che‐Yung;
Bartholdy, Roland;
Jarvis, Christopher

Publication type:

Article

Lorazepam challenge test for catatonia.

Published in:

2021

By:

Smith, Samuel;
Ketheesan, Sarangan;
Touma, Emile;
Lipman, Jeffrey;
Brown, Anthony FT

Publication type:

Case Study

Emergency department management of ischaemic priapism.

Published in:

Emergency Medicine Australasia, 2021, v. 33, n. 3, p. 555, doi. 10.1111/1742-6723.13770

By:

Lawton, Luke D

Publication type:

Article

Clinical clearance and imaging for possible cervical spine injury in children in the emergency department: A retrospective cohort study.

Published in:

Emergency Medicine Australasia, 2020, v. 32, n. 1, p. 93, doi. 10.1111/1742-6723.13351

By:

Hopper, Sandy M;
McKenna, Stewart;
Williams, Amanda;
Phillips, Natalie;
Babl, Franz E

Publication type:

Article

Lipodystrophy: Something to consider in the diabetes clinic.

Published in:

Journal of Diabetes Nursing, 2018, v. 22, n. 3, p. 1

By:

Adams, Claire;
Gaff, Lisa;
Melvin, Audrey

Publication type:

Article