Search

Your search keyword '"García Segarra, Nuria"' showing total 4 results
Start Over Author "García Segarra, Nuria"
4 results on '"García Segarra, Nuria"'

1. Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution

Author

Ivanyuk, Anton, García Segarra, Nuria, Buclin, Thierry, Klein, Andrea, Jacquier, David, Newman, Christopher J, and Blötzer, Clemens Florian

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, 610 Medicine & health, 360 Social problems & social services
Abstract

Rhabdomyolysis with myoglobinuria is a recognized complication of dystrophinopathies. It can be triggered by infections, exercise or volatile anesthetics. To our knowledge, it has never been reported in boys with Duchenne muscular dystrophy (DMD) after the administration of bisphosphonates. We report two patients with DMD who presented an apparent transient rhabdomyolysis with myoglobinuria after zoledronate administration. Possible mechanisms could involve hypophosphatemia, a known dose-dependent side effect of bisphosphonates, and/or direct myotoxicity of biphosphonates. Physicians and families should be aware of rhabdomyolysis with myoglobinuria as a potential uncommon side effect of bisphosphonates in DMD, in particular of zoledronate.

Published
2018
Full Text
View/download PDF

3. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Author

Sass, Jörn Oliver, primary, Gemperle-Britschgi, Corinne, additional, Tarailo-Graovac, Maja, additional, Patel, Nisha, additional, Walter, Melanie, additional, Jordanova, Albena, additional, Alfadhel, Majid, additional, Barić, Ivo, additional, Çoker, Mahmut, additional, Damli-Huber, Aynur, additional, Faqeih, Eissa Ali, additional, García Segarra, Nuria, additional, Geraghty, Michael T., additional, Jåtun, Bjørn Magne, additional, Kalkan Uçar, Sema, additional, Kriewitz, Merten, additional, Rauchenzauner, Markus, additional, Bilić, Karmen, additional, Tournev, Ivailo, additional, Till, Claudia, additional, Sayson, Bryan, additional, Beumer, Daniel, additional, Ye, Cynthia Xin, additional, Zhang, Lin-Hua, additional, Vallance, Hilary, additional, Alkuraya, Fowzan S., additional, and van Karnebeek, Clara D.M., additional

Published
2016
Full Text
View/download PDF

4. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Author

García Segarra, Nuria, primary, Gautschi, Ivan, additional, Mittaz-Crettol, Laureane, additional, Kallay Zetchi, Christine, additional, Al-Qusairi, Lama, additional, Van Bemmelen, Miguel Xavier, additional, Maeder, Philippe, additional, Bonafé, Luisa, additional, Schild, Laurent, additional, and Roulet-Perez, Eliane, additional

Published
2014
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results