Works matching IS 17501172 AND DT 2024 AND VI 19

Results: 447

Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03438-w
By:
- Youthong, Pimpitcha;
- Pakakasama, Samart;
- Komvilaisak, Patcharee;
- Rujkijyanont, Piya;
- Choed-Amphai, Chane;
- Phuakpet, Kamon;
- Moonla, Chatphatai;
- Polprasert, Chantana;
- Sosothikul, Darintr
Publication type:
Article
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03437-x
By:
- Ambrose, Anastasia;
- Bahl, Shalini;
- Sharma, Saloni;
- Zhang, Dan;
- Hung, Clara;
- Jain-Ghai, Shailly;
- Chan, Alicia;
- Mercimek-Andrews, Saadet
Publication type:
Article
Ultrasound evaluation of kidney and liver involvement in Bardet–Biedl syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03400-w
By:
- Cetiner, Metin;
- Finkelberg, Ilja;
- Schiepek, Felix;
- Pape, Lars;
- Hirtz, Raphael;
- Büscher, Anja K.
Publication type:
Article
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03369-6
By:
- Mu, Dan;
- Yang, Yanting;
- Liu, Yao;
- Shen, Ying;
- Liu, Hongqian;
- Wang, Jing
Publication type:
Article
Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03441-1
By:
- Liu, Yingjie;
- Li, Ying;
- Li, Pei;
- Zhang, Songyun;
- Zhiqing, Zhang
Publication type:
Article
Height prediction of individuals with osteogenesis imperfecta by machine learning.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03433-1
By:
- Yang, Hongjiang;
- Zhu, Wenbiao;
- Li, Bo;
- Wang, Hao;
- Xing, Cong;
- Xiong, Yang;
- Ren, Xiuzhi;
- Ning, Guangzhi
Publication type:
Article
Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03402-8
By:
- Beslow, Lauren A.;
- Kim, Helen;
- Hetts, Steven W.;
- Ratjen, Felix;
- Clancy, Marianne S.;
- Gossage, James R.;
- Faughnan, Marie E.
Publication type:
Article
The journey to diagnosis of wild-type transthyretin-mediated (ATTRwt) amyloidosis: a path with multisystem involvement.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03407-3
By:
- Karam, Chafic;
- Moffit, Colleen;
- Summers, Catherine;
- Merkel, Madeline P.;
- Kochman, Fran M.;
- Weijers, Laure;
- Puls, Mathilde;
- Schurer, Marieke;
- Jones, Emily;
- Mason, Nicola;
- Finkel, Muriel;
- Schmitt, Paula;
- Hanna, Mazen
Publication type:
Article
Expediting treatments in the 21st century: orphan drugs and accelerated approvals.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03398-1
By:
- Domike, Reuben;
- Raju, G. K.;
- Sullivan, Jamie;
- Kennedy, Annie
Publication type:
Article
Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03366-9
By:
- Rojas Martínez, Jorge Armando;
- Zarante Bahamón, Ana María;
- Salazar, Luz Victoria;
- Morales, Andrés Felipe;
- Higuera Cristancho, María Fernanda;
- Villanueva Congote, Juliana;
- Zarante Montoya, Ignacio;
- Gómez Espitia, Lina María
Publication type:
Article
Study on the disease burden of patients with mucopolysaccharidosis type II in China.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03432-2
By:
- Yuan, Ni;
- Li, Min;
- Wang, Shan-Shan;
- Yu, Hua-Xin;
- Wang, Ya-Qun;
- Dong, Fan-Yu;
- Chen, Han-Xiang;
- Duan, Sheng-Nan;
- Luo, Ji
Publication type:
Article
PHARC syndrome: an overview.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03418-0
By:
- Harutyunyan, Lusine;
- Callaerts, Patrick;
- Vermeer, Sascha
Publication type:
Article
Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis.
Published in:
2024
By:
- González, Karina;
- Eixarch, Teresa;
- Nuñez, Laura;
- Ariceta, Gema
Publication type:
Letter
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03395-4
By:
- Wertheim-Tysarowska, Katarzyna;
- Osipowicz, Katarzyna;
- Woźniak, Katarzyna;
- Sawicka, Justyna;
- Mika, Adrianna;
- Kutkowska-Kaźmierczak, Anna;
- Niepokój, Katarzyna;
- Sobczyńska-Tomaszewska, Agnieszka;
- Wawrzycki, Bartłomiej;
- Pietrzak, Aldona;
- Śmigiel, Robert;
- Wojtaś, Bartosz;
- Gielniewski, Bartłomiej;
- Szabelska-Beresewicz, Alicja;
- Zyprych-Walczak, Joanna;
- Rygiel, Agnieszka Magdalena;
- Domaszewicz, Alicja;
- Braun-Walicka, Natalia;
- Grabarczyk, Alicja;
- Rzońca-Niewczas, Sylwia
Publication type:
Article
Whole-body MRI-based long-term evaluation of pediatric NF1 patients without initial tumor burden with evidence of newly developed peripheral nerve sheath tumors.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03420-6
By:
- Schmalhofer, Marie-Lena;
- Farschtschi, Said;
- Kluwe, Lan;
- Mautner, Victor Felix;
- Adam, Gerhard;
- Well, Lennart;
- Ristow, Inka
Publication type:
Article
Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03428-y
By:
- Jaeger, B.;
- Hoytema van Konijnenburg, E.;
- Groenveld, M. A.;
- Langeveld, M.;
- Wolf, N. I.;
- Bosch, A. M.
Publication type:
Article
Effectiveness of a psychoeducational intervention on myositis patients' quality of life and well-being: a randomized controlled trial.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03426-0
By:
- Armadans-Tremolosa, Imma;
- Palacin-Lois, Maria;
- Castrechini-Trotta, Angela;
- Sanduvete-Chaves, Susana;
- Chacón-Moscoso, Salvador;
- Selva-O'Callaghan, Albert
Publication type:
Article
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03389-2
By:
- Granjo, Pedro;
- Pascoal, Carlota;
- Gallego, Diana;
- Francisco, Rita;
- Jaeken, Jaak;
- Moors, Tristen;
- Edmondson, Andrew C.;
- Kantautas, Kristin A.;
- Serrano, Mercedes;
- Videira, Paula A.;
- dos Reis Ferreira, Vanessa
Publication type:
Article
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03386-5
By:
- Wang, Yaqian;
- Li, Yang;
- Zeng, Lidong;
- Li, Wenbo;
- Dong, Xin;
- Guo, Jia;
- Meng, Xiangrui;
- Lu, Jiacheng;
- Xu, Jiawei
Publication type:
Article
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w
By:
- Parenti, Giancarlo;
- Fecarotta, Simona;
- Alagia, Marianna;
- Attaianese, Federica;
- Verde, Alessandra;
- Tarallo, Antonietta;
- Gragnaniello, Vincenza;
- Ziagaki, Athanasia;
- Guimaraes, Maria Jose';
- Aguiar, Patricio;
- Hahn, Andreas;
- Azevedo, Olga;
- Donati, Maria Alice;
- Kiec-Wilk, Beata;
- Scarpa, Maurizio;
- van der Beek, Nadine A. M. E.;
- Del Toro Riera, Mireja;
- Germain, Dominique P.;
- Huidekoper, Hidde;
- van den Hout, Johanna M. P.
Publication type:
Article
Latent factors underlying the symptoms of adult-onset myotonic dystrophy type 1 during the clinical course.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03359-8
By:
- Zhang, Yanan;
- Wallace, Bailey;
- Cai, Bo;
- Johnson, Nicholas;
- Ciafaloni, Emma;
- Venkatesh, Yedatore Swamy;
- Westfield, Christina;
- McDermott, Suzanne
Publication type:
Article
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03386-5
By:
- Wang, Yaqian;
- Li, Yang;
- Zeng, Lidong;
- Li, Wenbo;
- Dong, Xin;
- Guo, Jia;
- Meng, Xiangrui;
- Lu, Jiacheng;
- Xu, Jiawei
Publication type:
Article
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03411-7
By:
- Lakkhana, Panisara;
- Tim-Aroon, Thipwimol;
- Khongkraparn, Arthaporn;
- Noojarern, Saisuda;
- Wongkittichote, Parith;
- Wichajarn, Khunton;
- Kuptanon, Chulaluck;
- Boonyawat, Boonchai;
- Suphapeetiporn, Kanya;
- Wejaphikul, Karn;
- Seo, GoHun;
- Wattanasirichaigoon, Duangrurdee
Publication type:
Article
Concomitant sarcoidosis, psoriasis, and eczema – immune patterns on the skin.
Published in:
2024
By:
- Sitaru, Sebastian;
- Zink, Alexander;
- Biedermann, Tilo;
- Steimle-Grauer, Susanne Annette
Publication type:
Letter
Preferences for genetic interventions for SCA and Huntington's disease: results of a discrete choice experiment among patients.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03408-2
By:
- van Os, Nienke J.H.;
- Oosterloo, Mayke;
- Grutters, Janneke P.C.;
- Essers, Brigitte A.B.;
- van de Warrenburg, Bart P.C.
Publication type:
Article
Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Published in:
2024
By:
- Hebrard, Bérénice;
- Babonneau, Marie-Lise;
- Charron, Philippe;
- Consolino, Emilie;
- Dauriat, Benjamin;
- Dupin-Deguine, Delphine;
- Fargeaud, Dominique;
- Farrugia, Agnès;
- Giguet-Valard, Anna-Gaëlle;
- Guijarro, Damien;
- Inamo, Jocelyn;
- Jeanneteau, Julien;
- Mazzella, Jean-Michaël;
- Michon, Claire-Cécile;
- Millat, Gilles;
- Mouquet, Frédéric;
- Oghina, Silvia;
- Pereon, Yann;
- Poinsignon, Vianney;
- Pompougnac, Julie
Publication type:
Letter
Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03424-2
By:
- Koto, Yuta;
- Hadano, Nozomi;
- Sakai, Norio
Publication type:
Article
Clinical characteristics and treatment outcomes of women with recurrent uterine leiomyosarcoma.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03415-3
By:
- Yuan, Hua;
- Wang, Yaxi;
- Li, Ning;
- Wu, Lingying;
- Yao, Hongwen
Publication type:
Article
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03392-7
By:
- de Oliveira, Bibiana Mello;
- Bernardi, Filipe Andrade;
- Baiochi, João Francisco;
- Neiva, Mariane Barros;
- Artifon, Milena;
- Vergara, Alberto Andrade;
- Martins, Ana Maria;
- Grumach, Anete Sevciovic;
- Acosta, Angelina Xavier;
- Husny, Antonette Souto El;
- de Freitas Rodrigues Ribeiro, Bethania;
- Ramos, Camila Ferreira;
- Steiner, Carlos Eduardo;
- Kim, Chong Ae;
- Christofolini, Denise Maria;
- Yamada, Diego Bettiol;
- Carvalho, Ellaine Doris Fernandes;
- Ribeiro, Erlane Marques;
- de Arruda Bastos, Fabíola;
- Serpa, Faradiba Sarquis
Publication type:
Article
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03388-3
By:
- Wang, Li;
- Xu, Qingdan;
- Wang, Wentao;
- Sun, Xinghuai;
- Chen, Yuhong
Publication type:
Article
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
By:
- Howie, Alison H.;
- Tingley, Kylie;
- Inbar-Feigenberg, Michal;
- Mitchell, John J.;
- Angel, Kim;
- Gentle, Jenifer;
- Smith, Maureen;
- Offringa, Martin;
- Butcher, Nancy J.;
- Campeau, Philippe M.;
- Chakraborty, Pranesh;
- Chan, Alicia;
- Fergusson, Dean;
- Mamak, Eva;
- McClelland, Peyton;
- Mercimek-Andrews, Saadet;
- Mhanni, Aizeddin;
- Moazin, Zeinab;
- Rockman-Greenberg, Cheryl;
- Rupar, C. Anthony
Publication type:
Article
Psychological conditions of caregivers of adult subjects with Prader-Willi syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03385-6
By:
- Usubini, Anna Guerrini;
- Bondesan, Adele;
- Caroli, Diana;
- Frigerio, Francesca;
- Grugni, Graziano;
- Castelnuovo, Gianluca;
- Sartorio, Alessandro
Publication type:
Article
Uncertainties in evaluating the health-related quality of life and disease burden of people with rare diseases and their caregivers in NICE HST submissions.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03382-9
By:
- Looby, Alissa;
- Dymond, Amy;
- Green, William;
- Wentzel, Hannah;
- Malottki, Kinga
Publication type:
Article
Establishment of a value assessment framework for orphan medicinal products in China.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03393-6
By:
- Chen, Handong;
- Xiang, Yuliang;
- Tang, Xian;
- Hu, Ming
Publication type:
Article
Quality of life and unmet needs in patients with fabry disease: a qualitative study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03412-6
By:
- Morales, Montserrat;
- Cruz, Jordi;
- Brignani, Eduardo;
- Acuña, Laura;
- Lázaro, Esther;
- Soria, Cristina
Publication type:
Article
Addressing cancer survivors' information needs and satisfaction: a systematic review of potential intervention components for survivors with a rare cancer type.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03403-7
By:
- Farrugia, Tamsin;
- Duijts, Saskia F. A.;
- Wilson, Carlene;
- Hemming, Laura;
- Cockburn, Christine;
- Spelten, Evelien
Publication type:
Article
Toll-like receptors ligand immunomodulators for the treatment congenital diaphragmatic hernia.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03384-7
By:
- Vallejo-Cremades, Mayte;
- Merino, Javier;
- Carmona, Rita;
- Córdoba, Laura;
- Salvador, Beatriz;
- Martínez, Leopoldo;
- Tovar, Juan Antonio;
- Llamas, Miguel Ángel;
- Muñoz-Chápuli, Ramón;
- Fresno, Manuel
Publication type:
Article
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03275-x
By:
- Kurtovic-Kozaric, Amina;
- Singer-Berk, Moriel;
- Wood, Jordan;
- Evangelista, Emily;
- Panwala, Leena;
- Hope, Amanda;
- Heinrich, Stefanie M.;
- Baxter, Samantha;
- Kiel, Mark J.
Publication type:
Article
Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03390-9
By:
- Fehér, Tamás;
- Széll, Noémi;
- Nagy, István;
- Maróti, Zoltán;
- Kalmár, Tibor;
- Sohajda, Zoltán;
- Barboni, Mirella T. S.
Publication type:
Article
Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03350-3
By:
- Romeo, Dominic J.;
- George, Andrew M.;
- Sussman, Jonathan H.;
- Banala, Manisha;
- Wiemken, Andrew;
- Wu, Meagan;
- Ng, Jinggang J.;
- Taylor, Jesse A.;
- Schwab, Richard J.;
- Cielo, Christopher M.;
- Kalish, Jennifer M.
Publication type:
Article
Evaluation of global and regional myocardial work by echocardiography in patients with Fabry disease.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03396-3
By:
- Wang, Han;
- Yang, Ying;
- Liu, Lin;
- Zhao, Yawen;
- Li, Yang;
- Zhang, Wei;
- Ma, Wei
Publication type:
Article
Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03405-5
By:
- Kruse, Teresa;
- Leflerovà, Diana;
- Cap, Annette;
- Portegys, Sara;
- Wirth, Brunhilde;
- Heller, Raoul;
- Brakemeier, Svenja;
- Hagenacker, Tim;
- Braumann, Bert;
- Wunderlich, Gilbert
Publication type:
Article
A series of cases of transthyretin amyloid cardiomyopathy with negative bone scintigraphy but a confirmed positive endomyocardial biopsy.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03401-9
By:
- Fraix, Antoine;
- Itti, Emmanuel;
- Zaroui, Amira;
- Kharoubi, Mounira;
- Poullot, Elsa;
- Lerman, Lionel;
- Guendouz, Soulef;
- Huttin, Olivier;
- Damy, Thibaud;
- Galat, Arnault
Publication type:
Article
Identification of circRNA CDR1as/miR-214-3p regulatory axis in Legg-Calvé-Perthes disease.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03394-5
By:
- Lan, Xia;
- Yu, Ronghui;
- Xu, Jianyun
Publication type:
Article
Incidence and predictors of in-stent restenosis following intervention for pulmonary vein stenosis due to fibrosing mediastinitis.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03391-8
By:
- Jia, Mengfei;
- Su, Hongling;
- Jiang, Kaiyu;
- Wang, Aqian;
- Guo, Zhaoxia;
- Zhu, Hai;
- Zhang, Fu;
- Sun, Xuechun;
- Shi, Yiwei;
- Pan, Xin;
- Cao, Yunshan
Publication type:
Article
A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03406-4
By:
- Worker, Amanda;
- Mahon, Hadley;
- Sams, Jack;
- Boardman-Pretty, Freya;
- Marchini, Elena;
- Dubis, Rand;
- Warren, Alan;
- Stockdale, Jez;
- Kumar, Jyothika;
- Varones, Elizabeth;
- Ollerenshaw, Daniel;
- Grant, Calum;
- Fish, Peter;
- Kelly, Richard J.
Publication type:
Article
Rare Disease Focused Antenatal Education and Diagnosis Support: Two Case Studies of Epidermolysis Bullosa Simplex.
Published in:
2024
By:
- Saad, Rebecca;
- Pysar, Ryan;
- Blackwell, Alaxandra
Publication type:
Letter
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03365-w
By:
- Zhang, Shujie;
- Qin, Haisong;
- Wang, Qingming;
- Wang, Yingfei;
- Liu, Yanhui;
- Yang, Qi;
- Luo, Jingsi;
- Qin, Zailong;
- Ji, Xiang;
- Kan, Lijuan;
- Geng, Guoxing;
- Huang, Jing;
- Wei, Shengkai;
- Chen, Qiuli;
- Shen, Yiping;
- Yuan, Haiming;
- Lai, Baoling
Publication type:
Article
Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03349-w
By:
- Jeffs, Eunice;
- Pillay, Elizabeth I.;
- Ledwaba-Chapman, Lesedi;
- Bisquera, Alessandra;
- Robertson, Susan J.;
- McGrath, John A.;
- Wang, Yanzhong;
- Martinez, Anna E.;
- Mellerio, Jemima E.
Publication type:
Article
Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03380-x
By:
- Barretto, Carolina Teles;
- Nascimento, Márcia Helena Cassago;
- Brun, Bruna Ferro;
- da Silva, Tiago Barcelos;
- Dias, Pedro Augusto Costa;
- Silva, Cassiano Augusto Braga;
- Singh, Maneesh N.;
- Martin, Francis L.;
- Filgueiras, Paulo Roberto;
- Romão, Wanderson;
- Campos, Luciene Cristina Gastalho;
- Barauna, Valerio Garrone
Publication type:
Article