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Scholar Results 1 - 10 of about 42 citing Clarke: Narrative review: Fabry disease. (0.11 sec) 

Fabry's disease


YA Zarate, RJ Hopkin - The Lancet, 2008 - Elsevier
Fabry's disease is an X-linked lysosomal storage disorder caused by
abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase
A. The consequent abnormal accumulation of glycosphingolipids results in ...
Cited by 18 - Related articles - All 6 versions

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults …


C Auray-Blais, D Cyr, A Ntwari, ML West, J … - Molecular genetics and metabolism, 2008 - Elsevier
Fabry disease is a complex, multisystemic and clinically heterogeneous disease,
in which the urinary excretion of globotriaosylceramide (Gb 3 ), the principal
substrate of the deficient enzyme, α-galactosidase A, is more prominent ...
Cited by 17 - Related articles - All 2 versions

Lipid homeostasis in macrophages-implications for atherosclerosis


G Schmitz, M Grandl - Rev Physiol Biochem Pharmacol, 2008 - Springer
Abstract In industrialized societies with excess food supply, obesity is an
expanding problem. As a result of metabolic overload, besides obesity, insulin
resistance, type-2 di- abetes, dyslipidemia, hypertension, and ...
Cited by 10 - Related articles - All 2 versions

Fabry disease: An underrecognized cause of proteinuria


FC Fervenza, R Torra, DJ Lager - Kidney International, 2008 - medscape.com
A 37-year-old male was referred in 1999 for evaluation of proteinuria and a
serum creatinine of 1.8 mg −1 . He was asymptomatic. Apart from
hyperlipidemia, there was no history of diabetes, hypertension, macroscopic ...
Cited by 6 - Related articles - BL Direct - All 8 versions

Canadian Cardiovascular Society Consensus Conference guidelines on heart failure–2008 …


JMO Arnold, JG Howlett, A Ducharme, JA … - The Canadian Journal of Cardiology, 2008 - pubmedcentral.nih.gov
Heart failure is a clinical syndrome that normally requires health care to be
provided by both specialists and nonspecialists. This is advantageous because
patients benefit from complementary skill sets and experience, but can ...
Cited by 5 - Related articles - BL Direct - All 10 versions

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular …


C Auray-Blais, DS Millington, SP Young, JTR … - Journal of Inherited Metabolic Disease, 2009 - Springer
Page 1. LETTER TO THE EDITOR Proposed high-risk screening protocol for
Fabry disease in patients with renal and vascular disease ...
Cited by 5 - Related articles - All 2 versions

Treating lysosomal storage disorders: current practice and future prospects


FM Platt, RH Lachmann - BBA-Molecular Cell Research, 2009 - Elsevier
There are over 40 human disease states that are caused by defects in various
aspects of lysosomal function. Over the past two decades there has been dramatic
progress in the development and evaluation of therapies for lysosomal ...
Cited by 4 - Related articles - All 2 versions

Lysosomal storage diseases as differential diagnoses to rheumatic disorders


H Michels, E Mengel - Current Opinion in Rheumatology, 2008 - journals.lww.com
Recent findings: Many relevant investigations are based on large lysosomal
storage disease registries. The steadily growing number of patients has resulted
in an increasingly accurate description of the natural history of the ...
Cited by 4 - Related articles - BL Direct - All 2 versions

Fabry disease: cardiac manifestations and therapeutic options


B Pierre-Louis, A Kumar, WH Frishman - Cardiology in Review, 2009 - journals.lww.com
Fabry disease is a rare inherited lysosomal storage disorder caused by the
partial or complete deficiency of the lysosomal enzyme alpha galactosidase A
(α-Gal A), resulting in excess cellular glycosphingolipid deposition. ...
Cited by 3 - Related articles - All 2 versions

Genetics of stroke: a review of recent advances


S Domingues-Montanari, M Mendioroz, A del … - Expert Review of Molecular Diagnostics, 2008 - ingentaconnect.com
Stroke is a multifactorial disease responsible for nearly 10% of deaths each
year in industrialized countries. While some monogenic forms of stroke have been
described, the vast majority result from the common polygenic form of the ...
Cited by 2 - Related articles - All 5 versions


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