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

Results: 33

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

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

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

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

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

Palovarotene approved as first treatment for fibrodysplasia ossificans progressiva (FOP).

Published in:

2024

By:

Talha, Muhammad;
Ali, Mohammad Haris

Publication type:

Letter

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

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

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

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

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

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

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