Results 131 to 140 of about 1,271 (166)

Newborn Screening in Fabry Disease. [PDF]

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

Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database. [PDF]

Intractable Rare Dis Res
Wang J, Liu J, Chen J, Zhang A, Mao J, Shen T, Jiang X, Wang M, Tao Y, Zhao B, Wang X, Li Z, Chen A, Chen C, Zhang B, Zhang D, Zhao L, Zhao Y, Bao Y, Bai L, Liu C, Wang F, Hu F, Chen M, Lv X, Sun S, Shen Q, Xu H.   +27 more
europepmc   +1 more source

Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease. [PDF]

Cureus
Hotta J, Jogu Y, Bamba H, Izumiya Y, Kudo M, Imai T, Sakuraba H, Hamazaki T, Seto T.   +8 more
europepmc   +1 more source

Two diseases presenting only as cardiac hypertrophy: differences between the late-onset Fabry disease cardiac variant and hypertrophic cardiomyopathy. [PDF]

BMC Cardiovasc Disord
Lin L, Liu J, Xie Z, Yin L, Wang R, Huang S, Zhang D, Chen W, Wu Z, Wang X, Zhang Z, Zheng L, Lu N, Dai Y, Chen M, Guo Y, Lu L.   +16 more
europepmc   +1 more source

Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge. [PDF]

Front Cardiovasc Med
Xie JM, Li Q, Xiao ZQ, Zheng ZJ.
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

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

Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations. [PDF]

Int J Mol Sci
Mashima R, Ishige N.
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

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