Results 101 to 110 of about 5,245,219 (176)

Corneal confocal microscopy: A novel noninvasive means to diagnose neuropathy in patients with fabry disease

, 2009
Neuropathy is a cause of significant disability in patients with Fabry disease, yet its diagnosis is difficult. In this study we compared the novel noninvasive techniques of corneal confocal microscopy (CCM) to quantify small-fiber pathology, and non ...
Kenny, Margaret, Thompson, Lorraine, A. Malik, Rayaz, Efron, Nathan, Tavakoli, Mitra, Marshall, Andrew, Malik, Rayaz A., Waldek, Stephen, Rayaz A. Malik, Stephen Waldek, Lorraine Thompson, Margaret Kenny, Nathan Efron, Andrew Marshall, Mitra Tavakoli   +14 more
core   +1 more source

A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy

Kidney Medicine
The present case documents a 17-year-old woman patient with nephrotic syndrome who was diagnosed with Fabry disease complicated by idiopathic multicentric Castleman disease (iMCD) and membranous nephropathy.
Machiko Oka, Rikio Suzuki, Takeshi Akasaka   +2 more
doaj   +1 more source

Fabry\u27s Disease

, 1971
Presenting Symptom: Telangiectases. Pathology: Telangiectasis. Clinical: Fabry Disease is a storage disease in which ceramide trihexoside accumulates in various tissues but most notably in endothelia of blood vessels.
David G. Cogan, MD (1908-1993)
core  

Fabry - Eichinger : Medizin und Ästhetik; eine künstlerische Annäherung an Wilhelm Fabry

, 2010
Henning Eichinger beschäftigt sich seit dem Jahr 2000 in seiner künstlerischen Arbeit mit den scheinbaren Gegensätzen von Kunst und Wissenschaft. Als Gewinner des Kunstpreises des Fabry-Museums im Jahre 2000 stieß er auf den berühmten Wundarzt und ...
Eichinger, Henning, Ühlein, Hermann
core   +1 more source

Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment.

, 2007
UNLABELLED: Gastrointestinal symptoms in Fabry disease were first described independently by William Anderson and Johannes Fabry. Case reports and case series suggest that the whole gastrointestinal tract may be affected in patients with Fabry disease ...
Satish Keshav, Björn Hoffmann
core   +1 more source

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

Anderson-Fabry′s Disease

, 2001
A case of Anderson â€" Fabryâ€s disease presenting with cutaneous, ophthalmic and cardiological manifestations leading to death at an uncharacteristically early age is ...
Ghosh Arghyaprasun, Coondoo Arijit, Banerjee Raghubir   +2 more
core  

Epidemiological study of Italian patients with Fabry disease.

, 2002
A cohort of Italian patients with Fabry disease is described in this collaborative ...
Ricci, Roberta, Rigante, Donato
core  

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  

"On-Site Family Screening" in Fabry Disease: An Innovative Model for Identifying At-Risk Relatives. [PDF]

J Clin Med
Baran E, Kök G, Onay H.
europepmc   +1 more source