Fabry s disease

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Fabry s disease

LE WE PMID CA

Fabry s disease

868

Fabry Erkrankung

Agalsidase alfa

alpha Galactosidase A

Anemia (Sickle cell)

Angiokeratoma corporis diffusum

Cadasil

Chaperone

CNS (Stroke BASKET)

Fabry s disease

Gaucher s disease

Heart (Cardiomyopathy BASKET)

Inherited diseases (BASKET)

Inhibodies

Mitochondria (Mitochondriopathy)

Mucopolysaccharidosis I

Pain medicine (BASKET)

Storage diseases

1988 1	Anderson-Fabry disease. [3140961] BMJ 297(6653): 872-3 (1988)
2002 2	New developments in the management of Anderson-Fabry disease. [12324636] QJM 95(10): 647-53 (2002)
2010 3	Fabry disease: a review of current management strategies. [20660166] QJM 103(9): 641-59 (2010)
2004 4	The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy. [15147526] J Intern Med 255(6): 629-36 (2004)
2009 5	Fabry disease-often seen, rarely diagnosed. [19623315] Dtsch Arztebl Int 106(26): 440-7 (2009)
2007 6	The heart in Anderson-Fabry disease and other lysosomal storage disorders. [17401074] Heart 93(4): 528-35 (2007)
2003 7	Fabry disease. [12860841] Heart 89(8): 819-20 (2003)
2008 8	Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease. [19707461] Biologics 2(4): 823-43 (2008)
2006 9	A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1. [16729919] Health Technol Assess 10(20): iii-iv, ix-113 (2006)
2006 10	Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. [16702499] Arch Dermatol 142(5): 615-8 (2006)
2001 11	Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. [11322659] J Hum Genet 46(4): 192-6 (2001)
2010 12	Assessment of renal pathology and dysfunction in children with Fabry disease. [20056758] Clin J Am Soc Nephrol 5(2): 365-70 (2010)
2010 13	Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy. [20056752] Clin J Am Soc Nephrol 5(2): 379-85 (2010)
1990 14	Anderson-Fabry disease (angiokeratoma corporis diffusum universale). [2123167] Genitourin Med 66(5): 399-400 (1990)
2007 15	Narrative review: Fabry disease. [17371887] Ann Intern Med 146(6): 425-33 (2007)
2003 16	Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. [12585833] Ann Intern Med 138(4): 338-46 (2003)
2000 17	Renal involvement in Fabry's disease. [10939529] Intern Med 39(8): 601-2 (2000)
2007 18	Fabry nephropathy and the case for adjunctive renal therapy. [17699807] J Am Soc Nephrol 18(9): 2426-8 (2007)
2007 19	Enzyme replacement therapy and Fabry kidney disease: quo vadis? [17429046] J Am Soc Nephrol 18(5): 1368-70 (2007)
2002 20	Anderson-Fabry disease: extrarenal, neurologic manifestations. [12068029] J Am Soc Nephrol 13 Suppl 2(-): S150-3 (2002)
2002 21	Cardiac involvement in Anderson-Fabry disease. [12068028] J Am Soc Nephrol 13 Suppl 2(-): S147-9 (2002)
2002 22	End-stage renal disease in patients with Fabry disease. [12068027] J Am Soc Nephrol 13 Suppl 2(-): S144-6 (2002)
2002 23	Natural history and treatment of renal involvement in Fabry disease. [12068026] J Am Soc Nephrol 13 Suppl 2(-): S139-43 (2002)
2002 24	Renal pathology in Fabry disease. [12068025] J Am Soc Nephrol 13 Suppl 2(-): S134-8 (2002)
2002 25	Biochemical and molecular genetic basis of Fabry disease. [12068024] J Am Soc Nephrol 13 Suppl 2(-): S130-3 (2002)
2002 26	Anderson-Fabry disease: its place among other genetic causes of renal disease. [12068023] J Am Soc Nephrol 13 Suppl 2(-): S126-9 (2002)
2008 27	Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. [18264934] J Nephrol 21(1): 32-7 (2008)
2009 28	Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. [19218538] Nephrol Dial Transplant 24(7): 2102-11 (2009)
2009 29	Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. [19818152] Orphanet J Rare Dis 4(-): 21 (2009)
1997 30	Fabry's disease: a multidisciplinary disorder. [9519183] Postgrad Med J 73(865): 710-2 (1997)
2005 31	Genetics of cerebrovascular disorders. [15667040] Mayo Clin Proc 80(1): 122-32 (2005)
2010 32	Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). [19833663] Nephrol Dial Transplant 25(7): 2168-77 (2010)
2006 33	Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. [16249196] Nephrol Dial Transplant 21(2): 355-60 (2006)
2009 34	Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy. [19451361] Circulation 119(19): 2539-41 (2009)
2011 35	Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests. [22004918] Orphanet J Rare Dis 6(-): 66 (2011)
2010 36	Fabry disease. [21092187] Orphanet J Rare Dis 5(-): 30 (2010)
2010 37	Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. [20509947] Orphanet J Rare Dis 5(-): 14 (2010)
2011 38	Update on role of agalsidase alfa in management of Fabry disease. [21552486] Drug Des Devel Ther 5(-): 155-73 (2011)
2010 39	Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. [20065125] Arch Neurol 67(1): 19-24 (2010)
2011 40	Enzyme replacement therapy for Fabry disease: some answers but more questions. [21445281] Ther Clin Risk Manag 7(-): 69-82 (2011)
2011 41	Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy. [21298206] Cardiovasc J Afr 22(1): 38-44 (2011)
2011 42	Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. [21619592] BMC Neurol 11(-): 61 (2011)
2010 43	Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. [20300794] Neurol Sci 31(3): 299-306 (2010)
2011 44	Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. [21445610] J Inherit Metab Dis 34(3): 605-19 (2011)
2010 45	Fabry disease - current treatment and new drug development. [21127742] Curr Chem Genomics 4(-): 50-6 (2010)
2005 46	Cardiovascular manifestations of Fabry disease and the novel therapeutic strategies. [16247224] J Nihon Med Sch 72(5): 254-61 (2005)

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