Zobrazeno 1 - 7
of 7
pro vyhledávání: '"B. A. Bulbulia"'
Autor:
B. A. Bulbulia
Publikováno v:
Perspective of Recent Advances in Medical Research Vol. 2 ISBN: 9788196055172
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d2b67195bf14a86d12350006507ff4c
https://doi.org/10.9734/bpi/pramr/v2/4509e
https://doi.org/10.9734/bpi/pramr/v2/4509e
Early onset Pomp disease is a rare disorder often diagnosed late. Hypotonia, muscle weakens and cardio respiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb26ceb020eb2ffb01b16153e9cb217
Autor:
Maria Stella A. Amaral, Ana C. M. B. Reis, Henrique F. Pauna, Sarah C. Bernal, Eduardo T. Massuda, Miguel A. Hyppolito, Vladimir Zajac, Sahebari Maryam, Elham Atabati, Ravanshad Yalda, N. I. Yallanasa, H. B. Amrut, B. A. Bulbulia, I. M. Vally, Lawrence O. Amadi, Zigabel B. Bulo, Faith N. Dimkpa, Martha Omoo Ochoga, Aondoaseer Michael, Rose Okwunu Abah, Onyilo Ogbu, Emeka Uba Ejeliogu, Geoffrey Ingyoroko Tolough, Viviana Siddhi, Marxlenin Rodríguez-Martínez, Nicolás Padilla-Raygoza, Georgina Olvera-Villanueva, Ipsita Mahapatra, Ramesh Nagarajappa, Dharmashree Satyarup, Sharmistha Mohanty, L. Bubnovskaya, D. Osinsky, Habibur Rahman, Telny Thomas Chungath, Elena I. Zakharova, Zinaida I. Storozheva, Andrey T. Proshin, Mikhail Yu. Monakov, Alexander M. Dudchenko, Naseem Akhtar Qureshi, Salem Aldossari, Mohammed Ibrahim Alnami, Sara Osama Salem, Adnan Ahmed Makkawi, Dalal Salem Aldossari, Federico Benetti, Natalia Scialacomo, Dharmesh Chandra Sharma, Sunita Rai, Prakriti Gupta, Sachin Singhal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8a485fc2d1d10245038bb25a59ade31
https://doi.org/10.9734/bpi/ctmamr/v6
https://doi.org/10.9734/bpi/ctmamr/v6
Publikováno v:
Journal of Rare Disorders: Diagnosis & Therapy.
Early onset Pompe disease is a rare disorder often diagnosed late. Hypotonia, muscle weakness and cardiorespiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74e2ca83b27c2eb56a0b997d38bd19bb
https://doi.org/10.21767/2380-7245.100189
https://doi.org/10.21767/2380-7245.100189
