Results 101 to 110 of about 957 (152)

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing. [PDF]

BMC Cardiovasc Disord
Arad M, Chaves AVF, Antunes M, Bakhsh A, Berger KI, Fat TH, Alves da Fonseca A, Furtado A, Maksimova I, Marques E Silva S, Maski M, Monjes E, Murillo Benitez NE, Ortuño Campos E, Ribeiro MG, Rodriguez-González MJ, Yu WC, Onay H.   +17 more
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

Newborn Screening in Fabry Disease. [PDF]

Int J Mol Sci
Olszewska M, Schwermer K, Pawlaczyk K.
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

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

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low alpha-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered
openaire  

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

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

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

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