نتائج البحث

History and Perspective of LAMP-2 Deficiency (Danon Disease).

• Authors : Sugie K; Department of Neurology, School of Medicine, Nara Medical University, Nara 634-8521, Japan.; Nishino I

Subjects: Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/genetics ; Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/history ; Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/pathology

• Source: Biomolecules [Biomolecules] 2024 Oct 09; Vol. 14 (10). Date of Electronic Publication: 2024 Oct 09.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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Endovascular treatment in Danon disease: a case report.

• Authors : Jiménez-Bolaños R; Department of Neurology, Complejo Hospitalario Universitario Insular-Materno Infantil de Canarias, Las Palmas, Spain.; Hernández-Fernández F

Subjects: Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/complications; Humans ; Male

• Source: Journal of medical case reports [J Med Case Rep] 2024 May 12; Vol. 18 (1), pp. 244. Date of Electronic Publication: 2024 May 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease.

• Authors : Wang Y; Heart Center, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.; Gansu Key Laboratory of Cardiovascular Diseases, The First Hospital of Lanzhou University, Lanzhou, Gansu, China.

Subjects: Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/pathology ; Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/genetics; Humans

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Sep; Vol. 11 (9), pp. e2216. Date of Electronic Publication: 2023 Jun 08.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.

• Authors : Burban A; First Department of Cardiology, Medical University of Warsaw, ul. Banacha 1A, 02-097 Warszawa, Poland.; Doctoral School, Medical University of Warsaw, 81 Żwirki i Wigury Street, 02-091 Warsaw, Poland.

Subjects: Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/genetics ; Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/therapy ; Glycogen Storage Disease Type IIb*

• Source: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 26; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 26.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.

• Authors : Kleefeld F; Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neurology, Berlin, Germany.; Hentschel A

Subjects: Glycogen Storage Disease Type IIb*; Humans ; Multiomics

• Source: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2023 Aug; Vol. 49 (4), pp. e12920.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN:

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Danon Disease Natural History Study

• Source: An Observational Study of Genetic Cardiomyopathy, Danon Disease

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Metabolic Maturation Exaggerates Abnormal Calcium Handling in a Lamp2 Knockout Human Pluripotent Stem Cell-Derived Cardiomyocyte Model of Danon Disease.

• Authors : Barndt RJ; Pittsburgh Heart, Lung, and Blood Vascular Medicine Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.; Liu Q

Subjects: Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/genetics ; Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/Glycogen Storage Disease Type IIb*/metabolism ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism

• Source: Biomolecules [Biomolecules] 2022 Dec 29; Vol. 13 (1). Date of Electronic Publication: 2022 Dec 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease

• Source: Gene Therapy for Danon Disease: A Phase 2 Study Evaluating the Efficacy and Safety of Intravenously Administered Adeno-Associated Virus Serotype 9 (rAAV9) Vector

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Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.

• Authors : Zhang J; Cardiology Division, Department of Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.; Chou OH

Subjects: Genes, X-Linked*; Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/*genetics ; Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/*metabolism

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 29; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 29.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

• Authors : Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Subjects: Gene Expression Regulation* ; Visual Acuity*; Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/*complications

• Source: Acta ophthalmologica [Acta Ophthalmol] 2021 Feb; Vol. 99 (1), pp. 61-68. Date of Electronic Publication: 2020 Jun 13.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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