Works matching IS 2731085X AND DT 2024 AND VI 3 AND IP 1

Results: 33

Neonatal diabetes due to KCNJ11 pathogenic variant and its associated late risks.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00062-x
By:
- Gaidamaviciene, Gabija;
- Traberg, Rasa;
- Mockeviciene, Giedre;
- Aldakauskiene, Ilona
Publication type:
Article
Etidronate for arterial calcification due to deficiency of CD73 (ACDC): a step in the right direction.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00059-6
By:
- Qureshi, Ali Akram;
- Munir, Luqman;
- Alvi, Zainab
Publication type:
Article
Think VEXAS: a case report of Vexas syndrome.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00058-7
By:
- Najdi, T.;
- Karaa, S.
Publication type:
Article
Preliminary reliability and validity of the PedsQL™ Family Impact Module in parents of children with congenital muscular dystrophy.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00057-8
By:
- Lim, Yoonjeong;
- Lee, Seungmin;
- Hong, Ickpyo;
- Han, Areum
Publication type:
Article
Correction: Finerenone and other future therapeutic options for Alport syndrome.
Published in:
2024
By:
- Pearce, Helen;
- Mabillard, Holly
Publication type:
Correction Notice
Hospital dental care for patients with Niemann-Pick syndrome type B: a case report.
Published in:
2024
By:
- da Fonseca Orcina, Bernardo;
- Reia, Verônica Caroline Brito;
- Zangrando, Denis;
- da Silva Santos, Paulo Sérgio
Publication type:
Case Study
Lemierre syndrome due to Klebsiella pneumoniae: a rare case report with review of literature.
Published in:
2024
By:
- Rangan, N. Mohan;
- Singh, Anup Kumar;
- Yadav, Rekha C.;
- Roy, Indranil Deb;
- Tomar, Kapil;
- Singh, Neha;
- R, Vasanthanarayanan
Publication type:
Case Study
A retrospective review of LMNB1-related autosomal dominant leukodystrophy.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00055-w
By:
- Ortiz, Judit M. Perez;
- Muthusamy, Karthik;
- Tobin, W. Oliver;
- Gavrilova, Ralitza;
- Cousin, Margot A.;
- Dhamija, Radhika
Publication type:
Article
Intermediate type cystinosis with a novel CTNS variant in a child: a case report.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00053-y
By:
- Elamin, Mugahid;
- Alzhrany, Ghada;
- Mohamed, Reem;
- Daw, Wafa;
- Alabbasi, Bashiar;
- Ahmed, Muawia;
- Bakhiet, Yassir;
- Aloufi, Yomna;
- Aloufi, Majed
Publication type:
Article
Emerging biomarkers for precision diagnosis and personalized treatment of cystic fibrosis.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00052-z
By:
- Addissouky, Tamer A.;
- Sayed, Ibrahim El Tantawy El;
- Ali, Majeed M. A.;
- Wang, Yuliang
Publication type:
Article
Hematological involvement in nephropathic cystinosis: new insights.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00051-0
By:
- El-Ghamrawy, Mona;
- Soliman, Neveen A.
Publication type:
Article
Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00049-8
By:
- Vasseghi, M.;
- Behan, C.;
- Connolly, A.;
- Cunningham, D.;
- Dempsey, E.;
- Flynn, C.;
- Galvin, M.;
- Griffin, G.;
- Moloney, P.;
- Murphy, M.;
- Owen, Y.;
- O'Malley, S.;
- O'Rourke, G.;
- O'Sullivan, O.;
- Doherty, C. P.
Publication type:
Article
Epidemiology and healthcare resource utilisation associated with Duchenne muscular dystrophy.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00044-z
By:
- Morgan, Christopher Llewellyn;
- Godfrey, Josie;
- Chandler, Fleur;
- Reuben, Emily;
- Currie, Craig J.
Publication type:
Article
Facilitators and constraints of physical activity in adults with achondroplasia: a scoping review.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00048-9
By:
- Alves, Inês;
- Koromani, Fjorda;
- Lemos, Carolina;
- Tavares, Sofia;
- Fernandes, Orlando;
- Pereira, Cidália D.;
- Castro, Maria António;
- Rivadeneira, Fernando
Publication type:
Article
Brief report: assessment of barriers to mental health services among caregivers of children with rare disease.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00047-w
By:
- Hager, Kim;
- Calderon, Maria Martinez;
- Rothschild, Allison W.;
- Luiselli, James K.
Publication type:
Article
Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00045-y
By:
- Wakim, Victor;
- Dassouki, Mohammad El;
- Azar, Ahlam;
- Hani, Abeer;
- Mehawej, Cybel;
- Chouery, Eliane;
- Baroudi, Marie-Jeanne;
- Wakim, Gerard
Publication type:
Article
Dental management of Fanconi anemia: a rare congenital disorder.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00050-1
By:
- Dias, Jacqueline Jacinta;
- Gupta, Ankit;
- Shreehari, A. K.
Publication type:
Article
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00043-0
By:
- Neissi, Mostafa;
- Al-Badran, Adnan Issa;
- Mohammadi-Asl, Misagh;
- Al-Badran, Raed Abdulelah;
- Sheikh-Hosseini, Motahareh;
- Roghani, Mojdeh;
- Mohammadi-Asl, Javad
Publication type:
Article
A rare case report of the Cowden syndrome.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00039-w
By:
- Mahiboob, Sayyed;
- Gupta, Rajesh
Publication type:
Article
Unveiling cystinosis in India.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00046-x
By:
- Heroor, Aniruddh;
- Verma, Anshuman;
- Achanta, Divya Sree;
- Edward, Deepak Paul;
- Ramappa, Muralidhar
Publication type:
Article
Cystinosis — a review of disease pathogenesis, management, and future treatment options.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00041-2
By:
- Devitt, Lauren
Publication type:
Article
FDrisk as an accessible and user-friendly tool aimed at promoting earlier diagnosis: a complement to clinical suspicion in Fabry disease.
Published in:
2024
By:
- Margaria, Magali;
- Margaria, Roberto;
- Stegmann, Jorgelina;
- Politei, Juan Manuel
Publication type:
Letter to the Editor
Neurofibromatosis type 1 with three synchronous tumors.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00030-5
By:
- Kakkat, Shanavas;
- Zacharia, George Sarin;
- Ravindran, Rohit;
- Poovan, Chothisha;
- Jacob, Anu
Publication type:
Article
Explaining Alport syndrome—lessons from the adult nephrology clinic.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00036-z
By:
- Mabillard, Holly;
- Ryan, Rebecca;
- Tzoumas, Nik;
- Gear, Susie;
- Sayer, John A.
Publication type:
Article
Rescue cervical cerclage in twin pregnancy with spontaneous cervical dilatation at 8-week gestation.
Published in:
2024
By:
- Sharma, Gaurav;
- Pradhan, Samir;
- Zaidi, Sara;
- Shreedharan, Rinoy;
- Chandra, Vipin;
- Bhoi, Nihar Ranjan
Publication type:
Case Study
Mucormycosis: a rare forgotten but fatal disease—a case report and literature review.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00033-2
By:
- Matiku, Subira Bhoke;
- Murenzi, Gad;
- Shaban, Idd;
- Msonge, Augustine Muhiza;
- Kamafa, Ajuna Enock;
- Kitua, Daniel W.;
- Kimambo, Asteria;
- Mwakigonja, Amos Rodger;
- Massawe, Enica Richard
Publication type:
Article
Palovarotene approved as first treatment for fibrodysplasia ossificans progressiva (FOP).
Published in:
2024
By:
- Talha, Muhammad;
- Ali, Mohammad Haris
Publication type:
Letter
Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00031-4
By:
- Esson, Gavin;
- Logan, Ian;
- Wood, Katrina;
- Browning, Andrew C.;
- Sayer, John A.
Publication type:
Article
The role of physical medicine and rehabilitation in the management of a pediatric female with Möbius syndrome: a case report.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00037-y
By:
- Al-Ajlouni, Yazan A.;
- Lihaz, Maysa;
- Islam, Mohammad
Publication type:
Article
AmyKoS—a German real-world prospective cohort study of patients with suspected and proven amyloidosis.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00028-z
By:
- Ihne-Schubert, Sandra Michaela;
- Morbach, Caroline;
- Papagianni, Aikaterini;
- Cejka, Vladimir;
- Steinhardt, Maximilian Johannes;
- Held, Melissa;
- Zeller, Daniel;
- Frantz, Stefan;
- Geier, Andreas;
- Knop, Stefan;
- Sommer, Claudia;
- Störk, Stefan;
- Einsele, Hermann
Publication type:
Article
Correction: Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury.
Published in:
2024
By:
- Wappler-Guzzetta, Edina A.;
- Hanak, Brian W.;
- Bannout, Firas;
- Harder, Sheri L.;
- Deisch, Jeremy K.
Publication type:
Correction Notice
Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00027-0
By:
- Wappler-Guzzetta, Edina A.;
- Hanak, Brian W.;
- Bannout, Firas;
- Harder, Sheri L.;
- Deisch, Jeremy K.
Publication type:
Article
Neuropathologic findings in a patient with Parry-Romberg syndrome: active cerebral vasculitis and brain injury.
Published in:
Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00027-0
By:
- Wappler-Guzzetta, Edina A.;
- Hanak, Brian W.;
- Bannout, Firas;
- Harder, Sheri L.;
- Deisch, Jeremy K.
Publication type:
Article