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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

Gál, Anikó and Grosz, Zoltán and Borsos, Beáta and Szatmári, Ildikó and Sebők, Ágnes and Szakszon, Katalin and Herczegfalvi, Ágnes and Molnár, Mária Judit (2021) Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease. LIFE, 11 (6). ISSN 0024-3019

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Additional Information: Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, 1082, Hungary First Department of Pediatrics, Semmelweis University, Budapest, 1082, Hungary Department of Neurology, University of Pecs, Pecs, 7622, Hungary Department of Neurology, Aladar Petz University Teaching Hospital, Győr, 9023, Hungary Department of Pediatrics, St. Rafael Hospital of Zala County, Zalaegerszeg8900, Hungary Department of Pediatrics, Faculty of Medicine, University of Debrecen, Debrecen, 4032, Hungary Department of Neurology, University of Szeged, Szeged, 6720, Hungary Department of Pediatrics, Andras Josa Teaching Hospital, Nyiregyhaza, 4400, Hungary Department of Neurology, Bács-Kiskun County Hospital, Kecskemét, 6000, Hungary II. Department of Pediatrics, Semmelweis University, Budapest, 1082, Hungary Department of Toxicology, Heim Pal Children’s Hospital Budapest, Budapest, 1089, Hungary Department of Neurology, Szent György County Hospital, Székesfehérvár, 8000, Hungary Export Date: 24 June 2021 Correspondence Address: Molnar, M.J.; Institute of Genomic Medicine and Rare Disorders, Hungary; email: molnar.maria_judit@med.semmelweis-univ.hu Funding Agency and Grant Number: Hungarian Brain Research Program [KTIA_13_NAPA-III/6, KTIA_NAP_2017-1.2.1-NKP-2017-00002]; Semmelweis University; Janos Bolyai Research ScholarshipHungarian Academy of Sciences; New National Excellence Program of the Ministry for Innovation and Technology from the source of the National Research, Development and Innovation Fund [UNKP-20-5]; [NKFIH_132812] Funding text: This study was supported by the Hungarian Brain Research Program (KTIA_13_NAPA-III/6; KTIA_NAP_2017-1.2.1-NKP-2017-00002), NKFIH_132812, Semmelweis University Startup grants, Janos Bolyai Research Scholarship, UNKP-20-5 Research Scholarship (New National Excellence Program of the Ministry for Innovation and Technology from the source of the National Research, Development and Innovation Fund).
Subjects: R Medicine / orvostudomány > RC Internal medicine / belgyógyászat
SWORD Depositor: MTMT SWORD
Depositing User: MTMT SWORD
Date Deposited: 13 Sep 2021 10:06
Last Modified: 13 Sep 2021 10:06
URI: http://real.mtak.hu/id/eprint/129293

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