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Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
(Wiley Blackwell Publishing, Inc, 2019-05)
Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays ...
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings
(SAGE Publications, 2015-10)
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase ...
Cuidado de enfermería a las personas con enfermedades de depósito lisosomal y sus familias
(Universidad de la SabanaEnfermeríaFacultad de Enfermería y Rehabilitación, 2015-05-15)
A partir del descubrimiento del genoma humano en el año 2003, que tuvo como propósito descifrar el código genético de los cromosomas, la atención de la salud está cambiando en aspectos relacionados con la prevención de ...
Medicina genómica en el diagnóstico de enfermedades raras
A rare disease is a chronic, debilitating, highly complex, potentially fatal pathology with a low prevalence, this being 1 per 2.000 people. People with a rare disease frequently go through different problems such as the ...
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina
(Japan Soc Vet Sci, 2015-08)
This study describes an occurrence of pink morning glory (Ipomoea carnea) intoxication in goats in northern Argentina. The clinical signs displayed by the affected animals were ataxia, lethargy, emaciation, hypertonia of ...
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina
(Japan Soc Vet Sci, 2015-02-16)
This study describes an occurrence of pink morning glory (Ipomoea carnea) intoxication in goats in northern Argentina. The clinical signs displayed by the affected animals were ataxia, lethargy, emaciation, hypertonia of ...