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Lysosomal disease with hypertrophic cardiomyopathy

MedGen UID:
797365
Concept ID:
CN201159
Disease or Syndrome
Orphanet: ORPHA217581

Professional guidelines

PubMed

Rubino M, Monda E, Lioncino M, Caiazza M, Palmiero G, Dongiglio F, Fusco A, Cirillo A, Cesaro A, Capodicasa L, Mazzella M, Chiosi F, Orabona P, Bossone E, Calabrò P, Pisani A, Germain DP, Biagini E, Pieroni M, Limongelli G
Heart Fail Clin 2022 Jan;18(1):39-49. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.005. PMID: 34776082
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912

Recent clinical studies

Etiology

Tang MY, Hong YH, Zhou LX, Ni J
Curr Med Sci 2022 Apr;42(2):274-279. Epub 2022 Apr 13 doi: 10.1007/s11596-022-2578-4. PMID: 35419675
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Sestito S, Parisi F, Tallarico V, Tarsitano F, Roppa K, Pensabene L, Chimenz R, Ceravolo G, Calabrò MP, De Sarro R, Moricca MT, Bonapace G, Concolino D
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 2):107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PMID: 33000609
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR
J Med Genet 2015 May;52(5):353-8. Epub 2015 Mar 20 doi: 10.1136/jmedgenet-2014-102797. PMID: 25795794Free PMC Article

Diagnosis

Rubino M, Monda E, Lioncino M, Caiazza M, Palmiero G, Dongiglio F, Fusco A, Cirillo A, Cesaro A, Capodicasa L, Mazzella M, Chiosi F, Orabona P, Bossone E, Calabrò P, Pisani A, Germain DP, Biagini E, Pieroni M, Limongelli G
Heart Fail Clin 2022 Jan;18(1):39-49. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.005. PMID: 34776082
Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M
J Am Coll Cardiol 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024. PMID: 33602475
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F
Am J Med Sci 2020 Dec;360(6):641-649. Epub 2020 Jul 10 doi: 10.1016/j.amjms.2020.07.011. PMID: 32723516
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR
J Med Genet 2015 May;52(5):353-8. Epub 2015 Mar 20 doi: 10.1136/jmedgenet-2014-102797. PMID: 25795794Free PMC Article

Therapy

Tang MY, Hong YH, Zhou LX, Ni J
Curr Med Sci 2022 Apr;42(2):274-279. Epub 2022 Apr 13 doi: 10.1007/s11596-022-2578-4. PMID: 35419675
Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M
J Am Coll Cardiol 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024. PMID: 33602475
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR
J Med Genet 2015 May;52(5):353-8. Epub 2015 Mar 20 doi: 10.1136/jmedgenet-2014-102797. PMID: 25795794Free PMC Article

Prognosis

Vijapurapu R, Bradlow W, Leyva F, Moon JC, Zegard A, Lewis N, Kotecha D, Jovanovic A, Hughes DA, Woolfson P, Steeds RP, Geberhiwot T
Orphanet J Rare Dis 2022 Jan 6;17(1):6. doi: 10.1186/s13023-021-02133-4. PMID: 34991670Free PMC Article
Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C
Neuropathol Appl Neurobiol 2020 Jun;46(4):303-322. Epub 2019 Nov 25 doi: 10.1111/nan.12587. PMID: 31698507
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR
J Med Genet 2015 May;52(5):353-8. Epub 2015 Mar 20 doi: 10.1136/jmedgenet-2014-102797. PMID: 25795794Free PMC Article

Clinical prediction guides

Sestito S, Parisi F, Tallarico V, Tarsitano F, Roppa K, Pensabene L, Chimenz R, Ceravolo G, Calabrò MP, De Sarro R, Moricca MT, Bonapace G, Concolino D
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 2):107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PMID: 33000609
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Nair V, Belanger EC, Veinot JP
Cardiovasc Pathol 2019 Mar-Apr;39:12-24. Epub 2018 Dec 1 doi: 10.1016/j.carpath.2018.11.002. PMID: 30594732
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912

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