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Abstract Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological change

Externí odkaz: https://doaj.org/article/d63f77a4e8594226848dbc59023465a9

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Publikováno v: Orphanet Journal of Rare Diseases. 3/24/2022, Vol. 17 Issue 1, p1-16. 16p.

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The Psychometric Properties of the Hungarian Version of the Proactive Coping Inventory: Reliability, Construct Validity and Factor Structure.

Autor: Almássy, Zsuzsanna¹ (AUTHOR) almassy.zsuzsanna@arts.unideb.hu, Pék, Győző¹ (AUTHOR), Papp, Gábor¹ (AUTHOR), Greenglass, Esther R.² (AUTHOR)

Publikováno v: International Journal of Psychology & Psychological Therapy. Mar2014, Vol. 14 Issue 1, p115-124. 10p. 4 Charts.

A KÉSŐI KEZDETŰ POMPE-KÓRBAN SZENVEDŐK ENZIMPÓTLÓ KEZELÉSÉNEK HOSSZÚ TÁVÚ KÖVETÉSE. (Hungarian)

Autor: MOLNÁR, Mária Judit, BORSOS, Beáta, VÁRDI, Visy Katalin, GROSZ, Zoltán, SEBÔK, Ágnes, DÉZSI, Livia, ALMÁSSY, Zsuzsanna, KERÉNYI, Levente, JOBBÁGY, Zita, JÁVOR, László, BIDLÓ, Judit

Publikováno v: Clinical Neuroscience / Ideggyógyászati Szemle; 5/30/2020, Vol. 73 Issue 5/6, p151-159, 9p