Results 81 to 90 of about 11,284 (188)

Fabry disease

Diagnostic and Interventional Imaging, 2015
Daghfous, A., Toledano, E., Kalsoum, E., Tempremant, F., Boulanger, T., Leclerc, X., Pruvo, J.-P.   +6 more
openaire   +3 more sources

Bilateral avascular necrosis: A rare complication of Fabry disease

Molecular Genetics and Metabolism Reports
Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano, Joel Wells, Nicholas Stanzione, Virginia Kimonis   +3 more
doaj   +1 more source

Fabry disease in Poland [PDF]

Polish Archives of Internal Medicine, 2018
Bazan-Socha, Stanisława, Kuczia, Paweł, Musiał, Jacek, Błażejewska-Hyżorek, Beata   +3 more
openaire   +4 more sources

NEFROPATÍA POR ENFERMEDAD DE FABRY ASOCIADA A AGENESIA RENAL CONGÉNITA

Revistas Argentina de Medicina, 2017
Se presenta una mujer de 42 años de edad con agenesia renal congénita y enfermedad de Fabry, una asociación no comunicada hasta la fecha. Ambas patologías son posibles causas de proteinuria. Por la contraindicación relativa que significa la presencia de
Sebastián Pedro Antonio Jaurretche
doaj   +2 more sources

Fabry disease Schwann cells release p11 to induce sensory neuron hyperactivity

JCI Insight
Patients with Fabry disease suffer from chronic debilitating pain and peripheral sensory neuropathy with minimal treatment options, but the cellular drivers of this pain are unknown.
Tyler B. Waltz, Dongman Chao, Eve K. Prodoehl, Jonathan D. Enders, Vanessa L. Ehlers, Bhavya S. Dharanikota, Nancy M. Dahms, Elena Isaeva, Quinn H. Hogan, Bin Pan, Cheryl L. Stucky   +10 more
doaj   +1 more source

Noncompaction in Fabry's disease

Revista Portuguesa de Cardiologia (English Edition), 2015
Josef Finsterer, Sinda Zarrouk-Mahjoub, Sonam Kothari   +2 more
openaire   +3 more sources

Longitudinal Adipokine and Lipid Profiles in Fabry Disease. [PDF]

J Clin Med
Gatterer C, Allmer D, Beitzke D, Graf S, Hohensinner P, Ponleitner M, Steinacher E, Schmidt A, Sunder-Plassmann G, Rommer P, Lenz M.   +10 more
europepmc   +1 more source

Tolerability of SGLT2 inhibitors in patients with Fabry disease: An observational study. [PDF]

Am Heart J Plus
Mattig I, Zirkelbach B, Bonnekoh C, Stangl K, Hindricks G, Knebel F, Canaan-Kühl S, Spethmann S.   +7 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

Human α-galactosidase A is stimulated by folic acid supplementation - possible implications in Fabry disease management. [PDF]

PLoS One
Khatoon S, Junaid MA.
europepmc   +1 more source