Болезнь Фабри (БФ) является редкой лизосомной болезнью накопления,
характеризующейся нарушением обмена гликофосфолипидов вследствие …

Introduction: There are many difficulties encountered when diagnosing depression in its
early stages in the elderly. The role of the GP is vital for prompt diagnosis. Aim: The aim of …

Inherited metabolic disorders (IMDs) can present with psychiatric signs that vary widely from
one disease to another. This picture is further complicated by the fact that these features …

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic …

The etiology of chronic kidney disease is multifactorial but diabetes mellitus and
hypertension are the main factors. One of the rare causes is Fabry disease. Fabry disease is …

The 30% toward blood pressure variation (Dominiczak 2004; Mein 2004). Family studies
have estimated that the recurrence risk to a sibling (λs) for hypertension lies between 2.5 …

Uit een retrospectieve studie naar de impact van de ziekte van Fabry op de zwangerschap
bleek dat verschillende symptomen die te maken hebben met de ziekte van Fabry tijdens de …

Аннотация Болезнь Фабри–это редкое Х-сцепленное наследственное заболевание, в
основе которого лежат мутации гена GLA, вызывающие снижение активности …

Der M. Fabry ist eine vererbte, lysosomale Speichererkrankung mit klinischer Manifestation
in vielen Organsystemen. In der Neurologie kann er seltene Ursache und …

Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency
of alpha galactosidase A and accumulation of globotriaosyl ceramide (Gb3) in cells …