Results 111 to 120 of about 982 (163)

Neonatal screening for Fabry disease and long-term follow-up: The role of plasma globotriaosylsphingosine (LysoGb3) assay

Alberto B. Burlina, Vincenza Gragnaniello, Dana Velásquez Rivas, Elena Porcù, Alessandro P. Burlina   +4 more
openalex   +1 more source

Newborn Screening in Fabry Disease. [PDF]

Int J Mol Sci
Olszewska M, Schwermer K, Pawlaczyk K.
europepmc   +1 more source

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]

Int J Mol Sci
Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B, Becherucci F, Pasquinelli G, La Manna G, Capelli I, Mignani R.   +10 more
europepmc   +1 more source

Long-Term Cardiac Stability Despite Late Enzyme Replacement Therapy in Fabry Disease With Severe Renal Involvement. [PDF]

JACC Case Rep
Teixeira TB, Antunes MO, Paula de Morais Rodrigues Barros A, Brigo IR, Moreira GB, Almeida Torres RV, Gonzales Oliveira Leguizamon JA, Correia VM, Nastari L, Fernandes F.   +9 more
europepmc   +1 more source

High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results. [PDF]

Int J Mol Sci
Van Baelen A, Verhulst S, Eyskens F.
europepmc   +1 more source

A Fast Determination of Globotriaosylsphingosine in Plasma for Screening Fabry Disease Using UPLC-ESI-MS/MS

, 2015
Hye-Ran Yoon
openalex   +2 more sources

MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease. [PDF]

Biomedicines
Weiner S, Perleth S, Kampf T, Lau K, Hessenauer F, Homola G, Nordbeck P, Üçeyler N, Sommer C, Pham M, Schindehütte M.   +10 more
europepmc   +1 more source

Clinical management of female patients with Fabry disease based on expert consensus. [PDF]

Orphanet J Rare Dis
Brand E, Linhart A, Deegan P, Jurcut R, Pisani A, Torra R, Feldt-Rasmussen U.   +6 more
europepmc   +1 more source

Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease. [PDF]

Orphanet J Rare Dis
Li Y, Zhou X, Li J, Zhao Y, Yuan Y, Yang B, Xu J, Wei Q, Yan X, Zhang W, Wu Y.   +10 more
europepmc   +1 more source

Correction: Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease

, 2012
Mehdi Namdar, Cathérine Gebhard, Rafael Studiger, Yi Shi, Pavani Mocharla, Christian Schmied, Pedro Brugada, Thomas F. LÃ ⁄ scher, Giovanni G. Camici   +8 more
openalex   +2 more sources