Results 51 to 60 of about 16,061 (232)
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]
, 2002 Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Tei, C +13 more
core
Rastreio de doença de Fabry em doentes com não compactação do ventrículo esquerdo [PDF]
, 2019 It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified ...
Craveiro, Nuno +10 more
core +1 more source
British National Formulary Guidance on prescribing in pregnancy: A descriptive cross‐sectional study
British Journal of Clinical Pharmacology, EarlyView.Aim To assess how well pregnancy‐specific guidance within the British National Formulary supports healthcare professionals to facilitate safe and effective medication use. Methods We performed a manifest content analysis of the text of all pregnancy sections within British National Formulary drug monographs, with inductive and iterative coding.
Hannah Johnson +9 more
wiley +1 more source
Pulmonary involvement in Fabry disease [PDF]
, 2006 Pulmonary involvement in Fabry disease has received less attention than the effects of the disease on the kidneys, nervous system or heart. However, data from FOS -the Fabry Outcome Survey - are now helping to elucidate the pulmonary manifestations of ...
Barbey, F., Aubert, J.D.
core
On the importance of including both sexes in animal studies – insights from home‐cage monitoring
Biological Reviews, EarlyView.ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater +12 more
wiley +1 more source
Glycosaminoglycans and Fabry's disease
Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale, 2010 -
Zinellu E +10 more
openaire +4 more sources
Anderson-Fabry disease: a multiorgan disease. [PDF]
, 2013 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
PINTO, Antonio +4 more
core +1 more source
What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?
Turkish Archives of Otorhinolaryngology, 2023 Objective:Fabry disease is a rare hereditary lysosomal storage disease caused by the deficiency of alpha-galactosidase A (α-GLA). Although sensorineural hearing loss is common in Fabry disease, there are no studies in the literature that have screened a ...
Ekin Yiğit Köroğlu +3 more
doaj +1 more source
Status and future of recombinant adeno‐associated virus vector manufacturing
Biotechnology Progress, EarlyView.Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley +1 more source
Turkish Journal of Internal Medicine, 2020 Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj