Search Results - "Segarra, Nuria Garcia"

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina by Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa

“…We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in…”
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Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients by Bacci, Giacomo M., Donati, Maria A., Pasquini, Elisabetta, Munier, Francis, Cavicchi, Catia, Morrone, Amelia, Sodi, Andrea, Murro, Vittoria, Garcia Segarra, Nuria, Defilippi, Claudio, Bussolin, Leonardo, Caputo, Roberto

“…Purpose To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the…”
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Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient by Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean‐Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry

“…We present a patient who developed, after an early‐onset, a stable course of spastic paraplegia and ataxia for 4 decades and eventually succumbed to two…”
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Long-term liver disease in methylmalonic and propionic acidemias by Imbard, Apolline, Garcia Segarra, Nuria, Tardieu, Marine, Broué, Pierre, Bouchereau, Juliette, Pichard, Samia, de Baulny, Hélène Ogier, Slama, Abdelhamid, Mussini, Charlotte, Touati, Guy, Danjoux, Marie, Gaignard, Pauline, Vogel, Hannes, Labarthe, François, Schiff, Manuel, Benoist, Jean-François

“…Patients affected with methylmalonic acidemia (MMA) and propionic acidemia (PA) exhibit diverse long-term complications and poor outcome. Liver disease is not…”
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Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A by García Segarra, Nuria, Gautschi, Ivan, Mittaz-Crettol, Laureane, Kallay Zetchi, Christine, Al-Qusairi, Lama, Van Bemmelen, Miguel Xavier, Maeder, Philippe, Bonafé, Luisa, Schild, Laurent, Roulet-Perez, Eliane

“…Abstract Mutations in the CACNA1A gene, encoding the α1 subunit of the voltage-gated calcium channel CaV 2.1 (P/Q-type), have been associated with three…”
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Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial by Imbard, Apolline, Toumazi, Artemis, Magréault, Sophie, Garcia-Segarra, Nuria, Schlemmer, Dimitri, Kaguelidou, Florentia, Perronneau, Isabelle, Haignere, Jérémie, de Baulny, Hélène Ogier, Kuster, Alice, Feillet, François, Alberti, Corinne, Guilmin-Crépon, Sophie, Benoist, Jean-François, Schiff, Manuel

“…Betaine is an "alternate" methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in…”
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Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for caution by Ivanyuk, Anton, García Segarra, Nuria, Buclin, Thierry, Klein, Andrea, Jacquier, David, Newman, Christopher J., Bloetzer, Clemens

“…•Bisphosphonates are increasingly used in children with DMD.•Bisphosphonate-induced rhabdomyolysis has not previously been described in children.•We observed…”
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Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias by Chakrapani, Anupam, Valayannopoulos, Vassili, Segarra, Nuria García, Del Toro, Mireia, Donati, Maria Alice, García-Cazorla, Angeles, González, María Julieta, Plisson, Celine, Giordano, Vincenzo

“…Hyperammonaemia is a key sign of decompensation in organic acidurias (OAs) and can contribute to severe neurological complications, thus requiring rapid…”
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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals by Garcia Segarra, Nuria, Mittaz, Laureane, Campos-Xavier, Ana Belinda, Bartels, Cynthia F., Tuysuz, Beyhan, Alanay, Yasemin, Cimaz, Rolando, Cormier-Daire, Valerie, Di Rocco, Maja, Duba, Hans-Christoph, Elcioglu, Nursel H., Forzano, Francesca, Hospach, Toni, Kilic, Esra, Kuemmerle-Deschner, Jasmin B., Mortier, Geert, Mrusek, Sonja, Nampoothiri, Sheela, Obersztyn, Ewa, Pauli, Richard M., Selicorni, Angelo, Tenconi, Romano, Unger, Sheila, Utine, G. Eda, Wright, Michael, Zabel, Bernhard, Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

“…Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non‐inflammatory arthropathy caused by recessive loss of function mutations in WISP3…”
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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families by Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa Ali, García Segarra, Nuria, Geraghty, Michael T., Jåtun, Bjørn Magne, Kalkan Uçar, Sema, Kriewitz, Merten, Rauchenzauner, Markus, Bilić, Karmen, Tournev, Ivailo, Till, Claudia, Sayson, Bryan, Beumer, Daniel, Ye, Cynthia Xin, Zhang, Lin-Hua, Vallance, Hilary, Alkuraya, Fowzan S., van Karnebeek, Clara D.M.

“…Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the γ-glutamyl cycle, affecting either glutathione synthetase or…”
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Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia by Simon, Marleen, Campos-Xavier, Ana Belinda, Mittaz-Crettol, Lauréane, Valadares, Eugenia Ribeiro, Carvalho, Daniel, Speck-Martins, Carlos Eduardo, Nampoothiri, Sheela, Alanay, Yasemin, Mihci, Ercan, van Bever, Yolande, Garcia-Segarra, Nuria, Cavalcanti, Denise, Mortier, Geert, Bonafé, Luisa, Superti-Furga, Andrea

“…Spondylo‐megaepiphyseal‐metaphyseal dysplasia (SMMD; OMIM 613330) is a dysostosis/dysplasia caused by recessive mutations in the homeobox‐containing gene,…”
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Angelman syndrome and isovaleric acidemia: What is the link? by Lambrecht, Alix, Pichard, Samia, Maurey, Hélène, Segarra, Nuria Garcia, Drunat, Séverine, Acquaviva-Bourdain, Cécile, Passemard, Sandrine, Benoist, Jean-François, Fauret-Amsellem, Anne-Laure, Schiff, Manuel

“…We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of…”
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice by Mayorandan, Sebene, Meyer, Uta, Gokcay, Gülden, Segarra, Nuria Garcia, de Baulny, Hélène Ogier, van Spronsen, Francjan, Zeman, Jiri, de Laet, Corinne, Spiekerkoetter, Ute, Thimm, Eva, Maiorana, Arianna, Dionisi-Vici, Carlo, Moeslinger, Dorothea, Brunner-Krainz, Michaela, Lotz-Havla, Amelie Sophia, Cocho de Juan, José Angel, Couce Pico, Maria Luz, Santer, René, Scholl-Bürgi, Sabine, Mandel, Hanna, Bliksrud, Yngve Thomas, Freisinger, Peter, Aldamiz-Echevarria, Luis Jose, Hochuli, Michel, Gautschi, Matthias, Endig, Jessica, Jordan, Jens, McKiernan, Patrick, Ernst, Stefanie, Morlot, Susanne, Vogel, Arndt, Sander, Johannes, Das, Anibh Martin

“…Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure,…”
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Encephalopathies with intracranial calcification in children: clinical and genetic characterization by Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Belen, Chiapparini, Luisa, Garavaglia, Barbara, Orcesi, Simona

“…We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next…”
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Severe Neurologic Manifestations From Cervical Spine Instability in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia: New Topics in the Skeletal Dysplasias by SIMON, Marleen, CAMPOS-XAVIER, Ana Belinda, GARCIA-SEGARRA, Nuria, CAVALCANTI, Denise, MORTIER, Geert, BONAFE, Luisa, SUPERTI-FURGA, Andrea, MITTAZ-CRETTOL, Laureane, RIBEIRO VALADARES, Eugenia, CARVALHO, Daniel, EDUARDO SPECK-MARTINS, Carlos, NAMPOOTHIRI, Sheela, ALANAY, Yasemin, MIHCI, Ercan, VAN BEVER, Yolande

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The Diagnostic Challenge of Progressive Pseudorheumatoid Dysplasia (PPRD): A Review of Clinical Features, Radiographic Features, and WISP3 Mutations in 63 Affected Individuals: New Topics in the Skeletal Dysplasias by GARCIA SEGARRA, Nuria, MITTAZ, Laureane, ELCIOGLU, Nursel H, FORZANO, Francesca, HOSPACH, Toni, KILIC, Esra, KUEMMERLE-DESCHNER, Jasmin B, MORTIER, Geert, MRUSEK, Sonja, NAMPOOTHIRI, Sheela, OBERSZTYN, Ewa, PAULI, Richard M, CAMPOS-XAVIER, Ana Belinda, SELICORNI, Angelo, TENCONI, Romano, UNGER, Sheila, UTINE, G. Eda, WIGHT, Michael, ABEL, Bernhardz, WARMAN, MatthewL, SUPERTI-FURGA, Andrea, BONAFE, Luisa, BARTELS, Cynthia F, TUYSUZ, Beyhan, ALANAY, Yasemin, CIMAZ, Rolando, CORMIER-DAIRE, Valerie, DI ROCCO, Maja, DUBA, Hans-Christoph

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Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient by Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean-Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry

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