Results 101 to 110 of about 9,220,596 (237)

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

Molecular Genetics & Genomic Medicine, 2018
The p.Asn215Ser or p.N215S GLA variant has been associated with late‐onset cardiac variant of Fabry disease.
D. Germain, E. Brand, A. Burlina, F. Cecchi, S. Garman, J. Kempf, Dawn A. Laney, A. Linhart, L. Maródi, K. Nicholls, A. Ortiz, F. Pieruzzi, S. Shankar, S. Waldek, C. Wanner, A. Jovanović   +15 more
semanticscholar   +1 more source

Опыт ведения пациентов с болезнью Фабри после изменения дозы или смены препарата в процессе проведения ферментозаместительной терапии

Нервно-мышечные болезни, 2015
В связи с перебоями в поставках агалсидазы бета в 2009 г. многие пациенты с болезнью Фабри (БФ) были переведены на терапию меньшими дозами этого фермента или на лечение другим ферментом – агалсидазой альфа.

doaj  

Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease

Stem Cell Research
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA).
Zihan Li, Jing Luan, Yali Yang, Guowei Li, Zhouhui Hu, Che Yu, Yazhou Cui, Jinxiang Han   +7 more
doaj   +1 more source

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. [PDF]

, 1979
R J Desnick, Kenneth J. Dean, Gregory A. Grabowski, David F. Bishop, Charles C. Sweeley   +4 more
openalex   +1 more source

Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Genetics in Medicine, 2018
Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.
H. Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, K. Murayama, Takeshi Inoue, S. Yamamoto, K. Sugimura, Koichi Tamita, T. Kawasaki, J. Kajihara, Akifumi Onishi, H. Sugiyama, Teiko Sakai, I. Murata, Takamasa Oda, Shigeru Toyoda, K. Hanawa, Takeo Fujimura, S. Ura, M. Matsumura, H. Takano, Satoshi Yamashita, Gaku Matsukura, R. Tazawa, T. Shiga, M. Ebato, H. Satoh, S. Ishii   +30 more
semanticscholar   +1 more source

Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia. [PDF]

, 1978
Matthew W. Spence, Joe T.R. Clarke, D. M. D'Entremont, G A Sapp, E R Smith, Allen Goldbloom, G Davar   +6 more
openalex   +1 more source

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

International Journal of Molecular Sciences, 2018
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A).
G. Duro, C. Zizzo, G. Cammarata, A. Burlina, A. Burlina, G. Polo, Simone Scalia, Roberta Oliveri, S. Sciarrino, Daniele Francofonte, R. Alessandro, A. Pisani, G. Palladino, R. Napoletano, M. Tenuta, D. Masarone, G. Limongelli, E. Riccio, A. Frustaci, C. Chimenti, C. Ferri, F. Pieruzzi, M. Pieroni, M. Spada, C. Castana, M. Caserta, I. Monte, M. Rodolico, S. Feriozzi, Y. Battaglia, L. Amico, M. Losi, C. Autore, M. Lombardi, C. Zoccali, A. Testa, M. Postorino, R. Mignani, E. Zachara, Antonello Giordano, P. Colomba   +40 more
semanticscholar   +1 more source

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.

PLoS ONE
BackgroundRare diseases often present with a variety of clinical symptoms and therefore are challenging to diagnose. Fabry disease is an x-linked rare metabolic disorder. The severity of symptoms is usually different in men and women.
Philipp Hahn, Werner Lechner, Rainer-Georg Siefen, Christina Lampe, Peter Nordbeck, Lorenz Grigull, Thomas Lücke   +6 more
doaj   +1 more source

Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week.

Journal of the American College of Cardiology, 2021
M. Pieroni, J. Moon, E. Arbustini, R. Barriales-Villa, A. Camporeale, A. C. Vujkovac, P. Elliott, A. Hagège, J. Kuusisto, A. Linhart, P. Nordbeck, I. Olivotto, Päivi Pietilä-Effati, M. Namdar   +13 more
semanticscholar   +1 more source