Results 111 to 120 of about 35,392 (213)

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

Fabry's Disease.

Indian journal of dermatology, venereology and leprology, 2017
A case of Fabry' disease (angiokeratoma corporis diffusum universale) is reported. Presence of uncommon physical thick lips, large ears and proportion are high - lighted.
Vinod K, Sharma, Bhushan, Kumar, Inderjeet, Kaur, Surrinder, Kaur   +3 more
openaire   +1 more source

Anderson–Fabry disease

Journal of Cardiovascular Medicine, 2018
Alessandro, Di Toro, Valentina, Favalli, Eloisa, Arbustini   +2 more
openaire   +3 more sources

Stratification of patients with unclassified pain in the FabryScan database

Journal of Pain Research, 2019
Julia Forstenpointner,* Paul Moeller,* Manon Sendel, Maren Reimer, Philipp Hüllemann, Ralf BaronDivision of Neurological Pain Research and Therapy, Department of Neurology, University Hospital Schleswig-Holstein, Kiel 24105, Germany*These authors ...
Forstenpointner J, Moeller P, Sendel M, Reimer M, Hüllemann P, Baron R   +5 more
doaj  

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

Fabry disease: Enfermedad de fabry

, 2018
RESUMEN La enfermedad de Fabry es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima alfa galactosidasa A, con patrón de herencia ligado al cromosoma X. El cuadro clínico tiene una variedad de síntomas y signos; y se han descrito una variante clínica clásica y variantes clínica no clásica como la renal o cardíaca.
openaire   +1 more source

Newborn Screening in Fabry Disease. [PDF]

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

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women. [PDF]

J Inherit Metab Dis
Lenzini L, Pintus G, Gugelmo G, Burlina AP, Fadini GP, Burlina AB, Vitturi N.   +6 more
europepmc   +1 more source

Dapagliflozin in Patients With CKD With Fabry Disease. [PDF]

Kidney Int Rep
Battaglia Y, Vitturi N, Marchi G, Baciga F, Caccia F, Gugelmo G, Martinetti L, Stefanelli LF, Torresani S, Pisani A, Riccio E, Esposito P, Viazzi F, Chimenti C, Martino FK, Lenzini L, Sechi A, Zanoli L, Girelli D, Fadini GP, Nalesso F, Carraro G.   +21 more
europepmc   +1 more source