Results 61 to 70 of about 9,399,207 (308)

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

PLoS ONE, 2013
Fabry disease is an X-linked genetic disorder caused by defects in the α-galactosidase A (GLA) gene, and heterogeneous mutations lead to quantitative and/or qualitative defects in GLA protein in male patients with Fabry disease.
Sachie Nakano, Yoshihito Morizane, Noriko Makisaka, Toshihiro Suzuki, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Hitoshi Sakuraba, Futoshi Shibasaki   +8 more
doaj   +1 more source

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Clinical Genetics, 2019
Fabry disease (FD), a rare X‐linked disease, can be treated with bi‐monthly infusion of enzyme replacement therapy (ERT) to replace deficient α‐galactosidase A (AGAL‐A).
D. Germain, A. Fouilhoux, S. Decramer, M. Tardieu, P. Pillet, M. Fila, S. Rivera, G. Deschênes, D. Lacombe   +8 more
semanticscholar   +1 more source

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Journal of Medical Genetics, 2020
Background Fabry disease (α-galactosidase deficiency) is an X-linked genetic disease caused by a variety of pathogenic GLA variants. The phenotypic heterogeneity is considerable, with two major forms, classic and later-onset disease, but adjudication of ...
D. Germain, J. Oliveira, D. Bichet, H. Yoo, R. Hopkin, R. Lemay, J. Politei, C. Wanner, W. Wilcox, D. Warnock   +9 more
semanticscholar   +1 more source

Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report

Türk Kardiyoloji Derneği Arşivi, 2016
Fabry disease is the second most common inherited (X-linked recessive) lysosomal storage disease associated with multiple organ involvement. Cardiac involvement of Fabry disease varies.
Ahmet Taha Alper, Adnan Kaya, Ahmet İlker Tekkesin, Ahmet Oz   +3 more
doaj   +1 more source

Female Fabry disease patients and X-chromosome inactivation [PDF]

, 2018
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Juchniewicz, Patrycja, Kloska, Anna, Moskot, Marta, Piotrowska, Ewa, Tylki-Szymańska, Anna, Węgrzyn, Grzegorz   +7 more
core   +1 more source

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents

Orphanet Journal of Rare Diseases
Background Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic ...
Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney   +8 more
doaj   +1 more source

Neurological complications of Anderson-Fabry disease [PDF]

, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 more
core   +1 more source

Fabry disease: genetics, pathology, and treatment.

Revista da Associação Médica Brasileira, 2020
Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed.
Thaíza Passaglia Bernardes, R. D. Foresto, G. Kirsztajn   +2 more
semanticscholar   +1 more source

Hydrocolloid‐Based Multiwavelength Stretchable QD‐OLED Patch for Simultaneous Neonatal Jaundice and Dermatitis Treatment with Biosignal Monitoring

Advanced Healthcare Materials, EarlyView.
Comparison of therapeutic and diagnostic applications of a surface‐emitting light source with multiwavelength emission characteristics. Abstract Conventional light‐emitting‐diode‐based light sources suffer from rigidity, localized heating, and poor adaptability to skin deformation, limiting their use in skin‐attached medical devices.
In Ho Kim, Young Woo Kim, Jae‐Young Jeong, Ye Ji Shin, Chaeyeong Lee, Jae Gyun Choi, Oh Kwan Kwon, Kyoung Hwa Kim, Sang Jik Kwon, Eou‐Sik Cho, Yongmin Jeon   +10 more
wiley   +1 more source

Fabry’s Disease Cardiomyopathy

Journal of the American College of Cardiology, 2006
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Pieroni, Maurizio, Chimenti, Cristina, De Cobelli, Francesco, Morgante, Emanuela, Del Maschio, Alessandro, Gaudio, Carlo, Russo, Matteo Antonio, Frustaci, Andrea   +7 more
openaire   +2 more sources