Results 1 to 10 of about 29 (27)

Pompeova bolest – progresivna multiorganska bolest: dijagnostički i terapijski izazovi

Paediatria Croatica, 2020
Pompeova bolest je progresivna multiorganska bolest koja nastaje zbog nedostatka lizosomskog enzima kisele alfa-glukozidaze teposljedičnog nakupljanja glikogena i kaskade patoloških procesa. Klinički se očituje rasponom fenotipova, od fatalnog infantilnogdo blažih oblika bolesti.
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Pompeova bolest – rijetka bolest nakupljanja glikogena

Medicina Fluminensis, 2014
Pompe disease (PD, autosomal recessive disorder) is caused by deficient activity of lysosomal alfa glucosidase enzyme (releases glucose from glycogen). A complete deficit in infants (early onset PD) leads to a severe clinical presentation with extreme muscle weakness, hypertrophic cardiomyopathy, hepatomegaly and macroglossia.
Sonnenschein, Ivan, Bučuk, Mira, Pongrac, Petra, Tomić, Zoran   +3 more
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POMPEOVA BOLEST – SMJERNICE ZA DIJAGNOZU I LIJEČENJE ODRASLIH BOLESNIKA

Liječnički vjesnik, 2015
These guidelines provide a short summary of recommendations on Pompe disease, how to diagnose this disease, management of adult patients with this disease, follow-up of the patients and recommendations on therapy and genetic testing. Early diagnosis and management of patients with Pompe disease requires a multidisciplinary approach of several different
Pećin, Ivan, Muačević-Katanec, Diana, Šimić, Iveta, Fumić, Ksenija, Potočki, Kristina, Šućur, Nediljko, Reiner, Željko   +6 more
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Pompeova bolest

, 2017
Pompeova bolest rijedak je nasljedni autosomno recesivni metabolički poremećaj uzrokovan manjkom ili potpunim nedostatkom enzima α-1,4-glukozidaze zbog mutacije gena koji kodiraju ovaj enzim (GAA). Karakterizirana je nakupljanjem glikogena u lizosomima svih stanica, a posebno stanica mišića, jetra, srca i mozga.
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Pompeova bolest: Prikaz dvaju slučajeva

Paediatria Croatica. Supplement, 2010
Prikaz dvaju slučaja Pompeove ...
Ereš Hrvaćanin, Z, Fajdetić, D, Barić, Ivo, Dittich Mitrović, D, Ratković Blažević, V, Krajinović, G   +5 more
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Pompeova bolest – smjernice za dijagnozu i liječenje odraslih bolesnika [Pompe disease - guidelines for diagnosis and management of adult patients] [PDF]

, 2015
These guidelines provide a short summary of recommendations on Pompe disease, how to diagnose this disease, management of adult patients with this disease, follow-up of the patients and recommendations on therapy and genetic testing. Early diagnosis and management of patients with Pompe disease requires a multidisciplinary approach of several different
Pećin, Ivan, Muačević-Katanec, Diana, Šimić, Iveta, Fumić, Ksenija, Potočki, Kristina, Šućur, Nediljko, Reiner, Željko   +6 more
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Pompeova bolest

2007
nakon kratkog uvoda gdje su opisane osnovne karakteristike spomenute bolesti, prikazan je slučaj pacijenta s infantilnim oblikom Pompeove bolesti.
Karačić, Iva, Petković-Ramadža, Danijela, Tomasović, Maja, Fumić, Ksenija, Sarnavka, Vladimir, Barić, Ivo, Kuzmanić-Šamija, Radenka   +6 more
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Extraspinální příčina bolestí zad - subakutní trombóza horní mezenterické žíly

Medicína Pro Praxi, 2022
Svatopluk Ostry
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Dupuytrenova kontraktura - bolest Vikinga u suvremenom svijetu

Medicina Fluminensis, 2023
Vivien Mitrović
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Kronična opstruktivna plućna bolest

Zbornik Sveučilišta Libertas, 2022
Matea Gemišević
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