Results 71 to 80 of about 982 (163)

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused ...
Derralynn A. Hughes, Gere Sunder‐Plassmann, Ana Jovanovic, Eva Brand, Michael L. West, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, Aleš Linhart, Jasmine Rutecki, Joseph D. Giuliano, Eva Krusinska, Peter Nordbeck   +16 more
wiley   +1 more source

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 ...
Myrl Holida, Aleš Linhart, Antonio Pisani, Nicola Longo, François Eyskens, Ozlem Goker‐Alpan, Eric Wallace, Patrick Deegan, Camilla Tøndel, Ulla Feldt‐Rasmussen, Derralynn Hughes, Anat Sakov, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox, John A. Bernat   +19 more
wiley   +1 more source

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease

Molecular Genetics and Metabolism Reports, 2018
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids.
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto   +6 more
doaj   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek   +9 more
wiley   +1 more source

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Fabry disease is an X‐linked lysosomal disease caused by variants in the GLA gene. Although Fabry disease is X‐linked, GLA gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X‐linked recessive disease.
Alison C. Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy

罕见病研究
Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene. It leads to reduced or complete deficiency of the activity of α-galactosidase A (α-Gal A), resulting in an accumulation of the metabolic substrate ...
Chinese Society of Cardiology, Chinese Medical Association, Editorial Board of Chinese Journal of Cardiology   +1 more
doaj   +1 more source

Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study

ESC Heart Failure, Volume 11, Issue 6, Page 4381-4389, December 2024.
Abstract Aims Left ventricular hypertrophy (LVH) is frequently detected via echocardiography in individuals with Fabry disease (FD), sometimes leading to confusion with hypertrophic cardiomyopathy (HCM) of other aetiologies. Considering this diagnosis challenge, FD should be included in the list of differential diagnosis for patients presenting with ...
Zongwei Lin, Xinyu Zhang, Yan Liu, Dongxia Miao, Huanyi Zhang, Tao Zhang, Fenglei Zhang, Peng Li, Hongyan Dai, Guihua Jiang, Dongxia Zhang, Lin Zhong, Huixia Lu, Xiaoping Ji   +13 more
wiley   +1 more source

The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient

Clinical Case Reports, Volume 12, Issue 10, October 2024.
Key Clinical Message Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns. Their co‐occurrence is extremely rare, never been reported before.
Yasmine Elsherif, Ismail A. Ibrahim, Omar Elsherif, Hana J. Abukhadijah   +3 more
wiley   +1 more source

Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease

Cell Transplantation, 2020
Fabry disease is caused by a decrease in or loss of the activity of alpha-galactosidase, which causes its substrates globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to accumulate in cells throughout the body. This accumulation results
Daisuke Kami, Masashi Yamanami, Takahiro Tsukimura, Hideki Maeda, Tadayasu Togawa, Hitoshi Sakuraba, Satoshi Gojo   +6 more
doaj   +1 more source

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 more
doaj   +1 more source