Lysosomal glycogen storage disease with normal acid maltase.
about
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathyDanon disease: clinical features, evaluation, and managementAutophagy: an adaptive physiological countermeasure to cellular senescence and ischaemia/reperfusion-associated cardiac arrhythmiasDanon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathyUncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imagingLAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon diseaseWolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.Adult onset familial cherry-red spot myoclonus.LAMP2 shines a light on cardiomyopathy in an athlete.Danon disease for the cardiologist: case report and review of the literatureLAMP2 microdeletions in patients with Danon disease.LAMP-2 deficiency (Danon disease)Muscle glycogenoses.Danon Disease Due to a Novel LAMP2 Microduplication.Autophagic vacuolar myopathies.Cystoid macular edema in a patient with Danon diseaseGeneralized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.Cardiac complications of childhood myopathies.Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency.Mimics of Hypertrophic Cardiomyopathy - Diagnostic Clues to Aid Early Identification of Phenocopies.iPS cell modeling of cardiometabolic diseasesCardiomyocyte autophagy: metabolic profit and loss.Lysosomal Storage Diseases-Regulating Neurodegeneration.Danon disease as a cause of autophagic vacuolar myopathy.Monitoring autophagy in lysosomal storage disordersCardiovascular magnetic resonance findings in a case of Danon disease.A review of treatment of Pompe disease in infantsValosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblastsMutation in the γ2-subunit of AMP-activated protein kinase stimulates cardiomyocyte proliferation and hypertrophy independent of glycogen storage.Autophagy dysregulation in Danon disease.Autophagy and heart failure: a possible role for homocysteine.Danon disease: focusing on heart.Genetics and metabolic cardiomyopathies.Danon disease: a phenotypic expression of LAMP-2 deficiency.Myocardial glycogen dynamics: new perspectives on disease mechanisms.Autophagic cardiomyocyte death in cardiomyopathic hamsters and its prevention by granulocyte colony-stimulating factorStudying the pathophysiologic connection between cardiovascular and nervous systems using stem cells.LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens.
P2860
Q24292259-E07E5A0E-0B80-4E36-A3F7-EA947CEB4354Q26999433-FA675DA3-34AD-4FA1-BD2B-40B0F70F681FQ28070047-774AB7DC-3FA2-4B7D-BBFF-40F219C716C5Q28078142-B848541C-5B76-42AC-9CD1-66708F89F673Q30470370-99749E3C-9577-4A46-BD22-E92DD488A497Q30627604-328C569D-E41A-41F0-850A-42BF3403E168Q33168863-E4C7CD4A-3724-4D17-8954-EE1AFD144599Q33636326-14D6CE82-FF10-4653-994D-54D08E39B25CQ33644541-C618D505-FCE5-4CD7-9742-C5738E913CE8Q33806044-C455169B-589B-4D30-8FC5-7EEC20D44783Q33954482-98F10DFD-52F5-4839-BFFC-CC7D0D19EB82Q34171701-97984D3B-2716-4672-BBFA-93742ABC2E7EQ34299998-82DEAF92-89E7-4E6E-B2FF-E44067239DB0Q34422352-53A9F5D5-B028-43A3-83E9-B8F1D61A0738Q35036499-840BAD74-DE02-4595-B9F0-8B6CCF16497AQ35036864-9884D193-4C1E-46C4-8A51-6D3FA3957154Q35088111-8DE69839-16DB-4807-A9A2-B0F8942EAA36Q35121604-C685715B-1690-45C4-9E35-B12251214488Q35582668-DA3A7CEA-57DC-4A2F-AFFA-BF254C3609E7Q35582715-2788D47E-24FD-4B65-99CD-88AA515CB188Q36260661-71372CD7-FCDC-40B2-B761-8810A9957D72Q36458794-4AF1B402-2B0F-48DA-AED2-A7B519106522Q36539750-FC8E15D2-3733-40CF-9F39-BB83A8338673Q36570123-6CBF023C-2D56-4D02-A0E3-C9BE25650563Q36771137-6EE70101-859C-4609-83CC-F3ECEC6B08FEQ37123509-3D290A6C-7F83-48A1-A2F4-FCA8133E3D3FQ37159173-547390D6-2499-4E5F-9D24-1748F8405B64Q37196433-F04A2D9B-591E-4D53-B55E-FC6FB2E1F809Q37290516-F378E5AC-5675-4668-A3D1-D8CAF98AF9C2Q37434920-B51E3DDB-B8C7-477B-98F3-6E1D9D65FE5FQ37676322-4FCDB90C-2C57-4855-9FAD-7D713184EC12Q37744938-0748274F-F16F-453A-9705-05709D0E94D6Q37930526-A15082CE-CBCA-4A51-9019-9940AB0295ADQ38018530-EC974D1E-6EB6-4917-B822-947C7CA1F833Q38039376-A3366186-D28C-49E2-9552-99D0CB4B06F1Q38318596-CD94EF34-926C-4D65-9F2E-11BF3E30CD7AQ38353514-4C5E01DB-1FF5-40B3-A2E9-9BF4D42A8482Q38622547-547A2E59-EEAD-43D9-BE96-ED1376D830E4Q38740457-BFFADF25-89A9-4C01-A902-CC48E17A6669Q39697429-2813C0AB-71E0-4445-9ED1-89CFC2ACCFBA
P2860
Lysosomal glycogen storage disease with normal acid maltase.
description
1981 nî lūn-bûn
@nan
1981 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
name
Lysosomal glycogen storage disease with normal acid maltase.
@ast
Lysosomal glycogen storage disease with normal acid maltase.
@en
Lysosomal glycogen storage disease with normal acid maltase.
@nl
type
label
Lysosomal glycogen storage disease with normal acid maltase.
@ast
Lysosomal glycogen storage disease with normal acid maltase.
@en
Lysosomal glycogen storage disease with normal acid maltase.
@nl
prefLabel
Lysosomal glycogen storage disease with normal acid maltase.
@ast
Lysosomal glycogen storage disease with normal acid maltase.
@en
Lysosomal glycogen storage disease with normal acid maltase.
@nl
P2093
P356
P1433
P1476
Lysosomal glycogen storage disease with normal acid maltase.
@en
P2093
Eastwood A
Manaligod JR
Schliselfeld LH
P356
10.1212/WNL.31.1.51
P407
P577
1981-01-01T00:00:00Z