Results 81 to 90 of about 957 (152)

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis

Molecular Genetics and Metabolism Reports
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient or dysfunctional α-galactosidase A (AGAL) activity. Newborn screening (NBS) enables early detection and management; however,
Takaaki Sawada, Jun Kido, Takahiro Tsukimura, Keishin Sugawara, Tomoko Shiga, Seiji Saito, Tadayasu Togawa, Takahito Inoue, Yoriko Watanabe, Junpei Hamada, Hitoshi Sakuraba, Kimitoshi Nakamura   +11 more
doaj   +1 more source

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots

Biomolecules
Background: Early detection of sphingolipidoses is crucial to prevent irreversible complications and improve patient outcomes. The use of urine samples dried on filter paper (DUS) is a non-invasive strategy that simplifies the collection, storage, and ...
Tristan Martineau, Bruno Maranda, Christiane Auray-Blais   +2 more
doaj   +1 more source

Status and frontiers of Fabre disease

Orphanet Journal of Rare Diseases
Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions.
Wei Chu, Min Chen, Xiaoqin Lv, Sheng Lu, Changyan Wang, Limin Yin, Linyan Qian, Jiana Shi   +7 more
doaj   +1 more source

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 more
europepmc   +1 more source

Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series. [PDF]

J Multidiscip Healthc
Liu Y, Liu X, Yang M, Wang Q, Xu W, Zeng J, Han T, Mao H, Qian S.   +8 more
europepmc   +1 more source

A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease. [PDF]

Orphanet J Rare Dis
Ren H, Zhang W, Ouyang Y, Guo J, Xu H, Ma J, Luo X, Pan X, Yuan Y, Zhang W, Shen Q, Li B, Feng Q, Liu S, Chen N.   +14 more
europepmc   +1 more source

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease. [PDF]

Neurol Genet
Boettcher T, Beetz C, Schulze D, Saravanakumar D, Zonic E, Schroeder S, Kaune A, Oppermann S, Paknia O, Basto JP, Bauer P.   +10 more
europepmc   +1 more source

Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH). [PDF]

BMC Nephrol
Ng KP, Sandhu M, Banerjee D, Burton JO, Crowley L, Doulton T, Hameed MA, Hamer R, Menon M, Nicholas J, Ramakrishna SB, Shivakumar K, Geberhiwot T, Dasgupta I.   +13 more
europepmc   +1 more source

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study. [PDF]

Orphanet J Rare Dis
Xu Y, Chen Y, Fan J, Kou S, Zhuang X, Zhou B, Zhang X.   +6 more
europepmc   +1 more source

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
europepmc   +1 more source