about
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational studyAutophagy in lysosomal storage disordersMurine muscle cell models for Pompe disease and their use in studying therapeutic approachesTargeted approaches to induce immune tolerance for Pompe disease therapyAutophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgottenRole of autophagy in glycogen breakdown and its relevance to chloroquine myopathyQuantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRIA model of muscle atrophy based on live microscopy of muscle remodelling in Drosophila metamorphosis.A lysosome-centered view of nutrient homeostasisPTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora diseaseThe pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe diseaseAnalysis of voice quality in patients with late-onset Pompe disease.Hearing in adults with Pompe diseaseHearing loss in Pompe disease revisited: results from a study of 24 children.Phenotypical variation within 22 families with Pompe disease.Increased aortic stiffness and blood pressure in non-classic Pompe disease.GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe diseasePAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease.Rag GTPases are cardioprotective by regulating lysosomal function.Recurrent Microvirgula aerodenitrificans bacteremia.The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe DiseaseGenotype-phenotype correlation in Pompe disease, a step forward.Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsCardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapyPompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe DiseaseBurden of illness of Pompe disease in patients only receiving supportive care.Lung MRI and impairment of diaphragmatic function in Pompe disease.A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe diseaseAutophagy in Natural History and After ERT in Glycogenosis Type II.The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.Genetic counseling in Pompe disease.Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease.Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program
P2860
Q21202855-2069E99B-B395-49E5-A641-6CE58F83E68FQ24601671-545410CC-A8B4-48A9-88A7-5595A986C35CQ24647307-0319E516-22B2-4F26-88B9-B5EBD18A9218Q26767363-A6A1476A-3D77-4A2D-8055-8BFBCD2589A0Q27015911-FF3BA16D-F9E3-49E5-9D9F-206558EB101DQ27316640-3159C80D-AA9D-435E-BC44-FB8290B311A6Q27334864-6B87DAA3-53E3-456E-B9AB-BC450E382B6AQ27334997-EFBDB6CC-2209-48AF-9F25-498E24F70186Q28073435-303D78E9-9CCB-4B0C-B35E-70C06AD31630Q28477920-80D4A586-A9FC-4246-9465-2652F9F296CEQ28540925-765AAB01-4DBD-437B-B37A-8E67D03099A5Q30378900-036779CE-F97D-4EE4-9540-C0260F9A32E7Q30470326-2117C325-69AB-4E4B-A318-E5E16F7ED235Q30479184-D039A02B-BB8B-4DA6-A2C2-C3217B2A83D9Q30558083-3AF6FB32-AFEB-4EDA-83BE-0E5C2750CC52Q33579864-7EF5DFD5-A4F8-42F3-9EBB-5ED59757EBD7Q33635336-722E75C8-A23F-4CB8-BFDD-82BED33073CBQ33684105-83D25ACB-AF91-4941-B7CF-6C65ECE7E7A3Q33816751-9205AC4A-4723-41F1-AF53-B69ACD460798Q33841190-364212B5-F4B3-4DC8-878A-AE4560917A4AQ33908036-A78ED4FC-43F5-48ED-AD09-E7F913969B79Q34280955-1758FAFF-8505-4F7A-B0B5-CE1E856ED091Q34345151-0E8EA6EC-6A2E-43C3-811D-D9B9D9843098Q34440333-56235C72-7778-405B-8FEF-A2487ACFAB26Q34598948-A51DA942-9B86-4736-9753-EB261BBDC0EAQ34628389-447ADBFD-6897-4B97-BC86-6151A318519EQ34628997-2DE2485B-B8F1-4AC4-A558-D9445072A9C3Q35049000-D5B4BE20-9598-4CE0-9401-9D2EEAE2E2E5Q35102705-9CDB27E3-88FF-4D13-B2A7-2A34D35327F5Q35123163-7EA589CA-8E0D-40E0-B4D5-8C16D8E86DFEQ35183088-C1BB8311-D99D-4C84-BD91-10F0822973AAQ35214499-B6C30364-BA33-4A5C-873D-2E2A0E9C82C8Q35595602-B95644BE-F3AA-4617-82A0-17269E3F73CFQ35600430-A3BF70E5-7C7E-40F2-B33E-C1DC6F17B3E7Q35732635-07AAA88F-7353-4289-BEF7-941659DDF67AQ35752461-9FAF8502-EF53-498A-BAFF-8FC8B1E241BBQ35754407-5BA959F6-D292-4B8C-9415-B88EC0357A04Q35816862-F5A7B2D9-7240-4E04-88D4-6B6BDD776F84Q35853122-D014E30E-3704-4120-A53D-7A7F6BEC36D5Q35863802-CBD7BC79-8BCA-4B18-8EE9-BAE0CE748B75
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Pompe's disease.
@en
Pompe's disease.
@nl
type
label
Pompe's disease.
@en
Pompe's disease.
@nl
prefLabel
Pompe's disease.
@en
Pompe's disease.
@nl
P1433
P1476
Pompe's disease.
@en
P2093
Ans T van der Ploeg
Arnold J J Reuser
P304
P356
10.1016/S0140-6736(08)61555-X
P407
P577
2008-10-01T00:00:00Z