Works in Journal of Rare Diseases, 2025, Vol 4, Issue 1

Results: 29

Striving for excellence in paroxysmal nocturnal hemoglobinuria in Canada: the EPIC program.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00087-w

By:

Rho, Hayeong;
Yang, Kelsey;
Chow, Signy;
Patriquin, Christopher J.

Publication type:

Article

Clinical perspectives on myopathic complications in nephropathic cystinosis.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00092-z

By:

Sadjadi, Reza;
Ghossein, Cybele;
Elenberg, Ewa

Publication type:

Article

Apolipoprotein L1 risk alleles: extravasation of T. brucei and insights into lupus nephritis pathogenicity—a scoping review.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00093-y

By:

Zsidisin, George N.;
Politis, Andreas

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

Disruption of Lrpprc affects B cell development and proliferation in a mouse model of Leigh Syndrome French Canadian type.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00094-x

By:

Fois, Adrien;
Deschênes, Sonia;
Bourel, Capucine;
Beauchamp, Claudine;
Lombard-Vadnais, Félix;
Ruiz, Matthieu;
Charron, Guy;
Coderre, Lise;
Des Rosiers, Christine;
Alikashani, Azadeh;
Allen, Bruce G.;
Aubut, Chantale;
Bémeur, Chantal;
Burelle, Yan;
Labarthe, François;
Landry, Jeannine;
Laprise, Catherine;
Lavallée, Geneviève;
Lavoie, Pierre;
Maranda, Bruno

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

Restricted neck movements—a rare presentation of a rare disease.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00078-x

By:

Morgan, Anna;
Holjar-Erlic, Izidora;
Kelly, Alison

Publication type:

Article

Gene conversion in incontinentia pigmenti: a Chinese case series.

Published in:

2025

By:

Leung, Lai Ting;
Ho, Stephanie;
Yu, Pui Tak Kris;
Mok, Tsz Shun Myth;
Lo, Fai Man Ivan;
Cheng, Sze Wing Shirley;
Luk, Ho Ming

Publication type:

Case Study

Lower lean tissue mass in male Fabry disease patients and the burden of disease: findings from dual X-ray absorptiometry body composition.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00082-1

By:

Salles Rosa Neto, Nilton;
Bento, Judith Campos de Barros;
Takayama, Liliam;
Caparbo, Valéria de Falco;
Pereira, Rosa Maria Rodrigues;
Domiciano, Diogo Souza

Publication type:

Article

Barriers to cascade screening and prenatal testing in families with genetic haematological diseases.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00083-0

By:

Pandharipande, Archit;
Radhakrishnan, Nita;
Verma, Shruti;
Chauhan, Vivek Kumar;
Baby, Eby P.;
Srivastava, Anukriti

Publication type:

Article

A very rare clinical case of the inversion of all internal body organs: a complex case of laparoscopic gastrectomy in an obese woman.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00077-y

By:

Aaasi, Muataz;
Alkasti, Aya;
Al-Raeei, Marwan;
Ghanem, Muhammad;
Ahmad, Bisan;
Azmeh, Chadi

Publication type:

Article

Correction: Case report: neutropenic enterocolitis with cecal perforation in a breast cancer patient.

Published in:

2025

By:

Alshammery, Sahar;
Aljedaani, Khaled S.;
Alshahrani, Amer;
Alzahrani, Ali

Publication type:

Correction Notice

Case report: neutropenic enterocolitis with cecal perforation in a breast cancer patient.

Published in:

2025

By:

Alshammery, Sahar;
Aljedaani, Khaled S.;
Alshahrani, Amer;
Alzahrani, Ali

Publication type:

Case Study

Rising global threat of human metapneumovirus (hMPV in 2024/2025): pathogenesis, immune dynamics, vulnerabilities in immunocompromised individuals, and lessons from past pandemics.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00079-w

By:

Adedokun, Kamoru A.;
Adekola, Saheed A.;
Tajudeen, Adebisi;
Bello-Ibiyemi, Abdulraheem A.;
Babandina, Musa Muhammad;
Magwe, Edward A.;
Bello, Aminah

Publication type:

Article

Drug development for rare diseases: a case for patient-centricity, equity, and access to clinical trials.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00069-y

By:

Bowen, Allison E.;
Nargundkar, Satish

Publication type:

Article

FDA approves Miplyffa and Aqneursa: a new era in treatment of Niemann-Pick Disease Type C.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00076-z

By:

Noor, Rizwana;
Qazi, Muhammad Saeed

Publication type:

Article

Case report: neutropenic enterocolitis with cecal perforation in a breast cancer patient.

Published in:

2025

By:

Alshammery, Sahar;
Aljedaani, Khaled S.;
Alsharani, Amer;
Alzahrani, Ali

Publication type:

Case Study

Struggles and resilience: thalassemia patients navigating COVID-19 in Bangladesh.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00068-z

By:

Islam, Farhin;
Seemanta, Senjuti;
Rezina, Sonia;
Mehrab, Afsana;
Raheem, Enayetur;
Hossain, Mohammad Sorowar

Publication type:

Article

Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00072-3

By:

Zsidisin, George N.

Publication type:

Article

Genetic investigation of an Iraqi family with Emery-Dreifuss muscular dystrophy.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00074-1

By:

Neissi, Mostafa;
Al-Zaalan, Ayoob Radhi;
Al-Badran, Adnan Issa;
Mohammadi-Asl, Javad

Publication type:

Article

Visceral myopathy in a newborn mimicking Hirschprung's disease: a case report.

Published in:

2025

By:

Hamadeh, Wassim;
Sayad, Rony

Publication type:

Case Study

Experience of chronic pain and stigma in an adolescent with hereditary multiple osteochondromas: a case report.

Published in:

2025

By:

Holz, Emily A.

Publication type:

Case Study

Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00070-5

By:

Hassan, Heba A.;
Mazen, Inas;
Mekkawy, Mona K.;
Elaidy, Aya;
Kamel, Alaa;
Essawi, Mona L.

Publication type:

Article

GLP-1 receptor agonists—another promising therapy for Alport syndrome?

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-024-00065-8

By:

Boeckhaus, Jan;
Mabillard, Holly;
Sayer, John A.

Publication type:

Article

Genomic diversity: meeting the challenge of rare diseases.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00067-0

By:

Soliman, Neveen A.;
Sayer, John A.

Publication type:

Article

ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00066-1

By:

Neissi, Mostafa;
Al-Zaalan, Ayoob Radhi;
Mohammadi-Asl, Misagh;
Roghani, Mojdeh;
Mohammadi-Asl, Javad;
Jorfi, Kamele

Publication type:

Article

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature.

Published in:

2025

By:

Abdatam, Maimuna;
Nhungo, Charles John;
Muhamba, Frank;
Mwanga, Ally Hamis;
Akoko, Larry;
Mkony, Charles A.

Publication type:

Case Study

Cerebral vein thrombosis as the initial presentation of acute promyelocytic leukemia (APML).

Published in:

2025

By:

Zulfiqar, Fizza;
Khadoori, Noora;
Deptula, Lisa;
Krishnamoorthy, Geetha

Publication type:

Case Study

Fitz-Hugh-Curtis syndrome: a case study of a frequently missed diagnosis.

Published in:

2025

By:

Gega, Zephania D. P.;
Lyimo, Henry I.;
Kitua, Daniel W.;
Mwanga, Ally H.

Publication type:

Case Study