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51

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

Matalonga, Leslie, Arias, Ángela, Tort, Frederic, Ferrer-Cortés, Xènia, Garcia-Villoria, Judit, Coll, Maria Josep, Gort, Laura, Ribes, Antonia

Journal:

Neurotherapeutics

Year:

2015

Language:

english

File:

PDF, 2.40 MB

english, 2015

52

Hybrid metaheuristics for the Accessibility Windows Assembly Line Balancing Problem Level 2 (AWALBP-L2)

Calleja, Gema, Corominas, Albert, García-Villoria, Alberto, Pastor, Rafael

Journal:

European Journal of Operational Research

Year:

2015

Language:

english

File:

PDF, 862 KB

english, 2015

53

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

Perez-Cerda, Celia, García-Villoria, Judit, Ofman, Rob, Sala, Pedro Ruiz, Merinero, Begoña, Ramos, Julio, García-Silva, Maria Teresa, Beseler, Beatriz, Dalmau, Jaime, Wanders, Ronald J A, Ugarte, Magd

Journal:

Pediatric Research

Year:

2005

Language:

english

File:

PDF, 165 KB

english, 2005

54

A meta-heuristic method to design off-grid community electrification projects with renewable energies

Ranaboldo, Matteo, García-Villoria, Alberto, Ferrer-Martí, Laia, Pastor Moreno, Rafael

Journal:

Year:

2015

Language:

english

File:

PDF, 2.13 MB

english, 2015

55

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Pajares, Sonia, Arias, Angela, García-Villoria, Judit, Macías-Vidal, Judit, Ros, Emilio, de las Heras, Javier, Girós, Marisa, Coll, Maria J., Ribes, Antonia

Journal:

The Journal of Lipid Research

Year:

2015

Language:

english

File:

PDF, 1.26 MB

english, 2015

56

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis

Ariceta, Gema, Camacho, Juan Antonio, Fernández-Obispo, Matilde, Fernández-Polo, Aurora, Gamez, Josep, García-Villoria, Judit, Monteczuma, Enrique Lara, Leyes, Pere, Martín-Begué, Nieves, Oppenheimer,

Journal:

Nefrología (English Edition)

Year:

2015

Language:

english

File:

PDF, 369 KB

english, 2015

57

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Ortigoza-Escobar, Juan Darío, Molero-Luis, Marta, Arias, Angela, Oyarzabal, Alfonso, Darín, Niklas, Serrano, Mercedes, Garcia-Cazorla, Angels, Tondo, Mireia, Hernández, María, Garcia-Villoria, Judit,

Journal:

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

58

An adaptive search for the response time variability problem

S Salhi and A García-Villoria

Journal:

Journal of the Operational Research Society

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

59

MILP-based heuristics for the design of rural community electrification projects

Triadó-Aymerich, Joan, Ferrer-Martí, Laia, García-Villoria, Alberto, Pastor, Rafael

Journal:

Computers & Operations Research

Year:

2016

Language:

english

File:

PDF, 558 KB

english, 2016

60

Erratum to “Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis”[Clin. Biochem. 42 (2009) 27–33]

García-Villoria, Judit, Navarro-Sastre, Aleix, Fons, Carme, Pérez–Cerdá, Celia, Baldellou, Antonio, Fuentes-Castelló, Miguel Ángel, González, Inmaculada, Hernández-Gonzalez, Arturo, Fernández, Cristin

Journal:

Clinical Biochemistry

Year:

2016

File:

PDF, 224 KB

2016

61

Solving the Response Time Variable Problem by means of a Variable Neighbourhood Search Algorithm

Albert, Corominas, Alberto, García-Villoria, Rafael, Pastor

Journal:

IFAC Proceedings Volumes

Year:

2009

Language:

english

File:

PDF, 251 KB

english, 2009

62

An adaptive search for the response time variability problem

Salhi, S, García-Villoria, A

Journal:

Journal of the Operational Research Society

Year:

2012

Language:

english

File:

PDF, 516 KB

english, 2012

63

Fine-tuning a parametric Clarke and Wright heuristic by means of EAGH (empirically adjusted greedy heuristics)

A Corominas, A García-Villoria and R Pastor

Journal:

Journal of the Operational Research Society

Year:

2010

Language:

english

File:

PDF, 830 KB

english, 2010

64

Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto

Ariceta, Gema, Camacho, Juan Antonio, Fernández-Obispo, Matilde, Fernández-Polo, Aurora, Gámez, Josep, García-Villoria, Judit, Lara, Enrique, Leyes, Pere, Martín-Begué, Nieves, Perelló, Manel, Pintos-

Journal:

Year:

2016

File:

PDF, 1.07 MB

2016

65

Fine-tuning a parametric Clarke and Wright heuristic by means of EAGH (empirically adjusted greedy heuristics)

Corominas, A, García-Villoria, A, Pastor, R

Journal:

Journal of the Operational Research Society

Year:

2010

Language:

english

File:

PDF, 236 KB

english, 2010

66

Technical note: a systematic procedure based on CALIBRA and the Nelder & Mead algorithm for fine-tuning metaheuristics

Corominas, A, García-Villoria, A, Pastor, R

Journal:

Journal of the Operational Research Society

Year:

2013

Language:

english

File:

PDF, 394 KB

english, 2013

67

A coordinated transition model for patients with cystinosis: from pediatric to adult care

Ariceta, Gema, Camacho, Juan Antonio, Fernández-Obispo, Matilde, Fernández-Polo, Aurora, Gámez, Josep, García-Villoria, Judit, Lara, Enrique, Leyes, Pere, Martín-Begué, Nieves, Perelló, Manel, Pintos-

Journal:

Nefrología (English Edition)

Year:

2016

File:

PDF, 919 KB

2016

68

Ghrelin Causes a Decline in GABA Release by Reducing Fatty Acid Oxidation in Cortex

Mir, Joan Francesc, Zagmutt, Sebastián, Lichtenstein, Mathieu P, García-Villoria, Judit, Weber, Minéia, Gracia, Ana, Fabriàs, Gemma, Casas, Josefina, López, Miguel, Casals, Núria, Ribes, Antònia, Suño

Journal:

Molecular Neurobiology

Year:

2018

File:

PDF, 1.02 MB

2018

69

A multistage graph-based procedure for solving a just-in-time flexible job-shop scheduling problem with machine and time-dependent processing costs

Corominas, Albert, García-Villoria, Alberto, González, Néstor-Andrés, Pastor, Rafael

Journal:

Journal of the Operational Research Society

Year:

2018

Language:

english

File:

PDF, 1.94 MB

english, 2018

70

Solving the accessibility windows assembly line problem level 1 and variant 1 (AWALBP-L1-1) with precedence constraints

García-Villoria, Alberto, Corominas, Albert, Nadal, Adrià, Pastor, Rafael

Journal:

European Journal of Operational Research

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

71

Fatty Acid Transport Protein 1 (FATP1) Localizes in Mitochondria in Mouse Skeletal Muscle and Regulates Lipid and Ketone Body Disposal

Guitart, Maria, Osorio-Conles, Óscar, Pentinat, Thais, Cebrià, Judith, García-Villoria, Judit, Sala, David, Sebastián, David, Zorzano, Antonio, Ribes, Antonia, Jiménez-Chillarón, Josep C., García-Mart

Journal:

Year:

2014

Language:

english

File:

PDF, 3.05 MB

english, 2014

72

FLAD1 , encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

García-Villoria, Judit, De Azua, Begoña, Tort, Frederic, Mosegaard, Signe, Ugarteburu, Olatz, Texidó, Laura, Morales-Romero, Blai, Olsen, Rikke K.J., Ribes, Antonia

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 490 KB

english, 2018

73

Calculation and validation of cut-off values for amino acids and acylcarnitines in dried blood spot samples extracted more than seven days after birth in the catalonian newborn screening program

De Aledo-Castillo, J.M. González, Galera, R.M. López, Argudo-Ramírez, A., Soria, J.L. Marín, Carreira, C. Martínez, Fernández, J. Pérez, García-Villoria, J., García, S. Pajares

Journal:

Clinica Chimica Acta

Year:

2019

Language:

english

File:

PDF, 76 KB

english, 2019

74

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Pajares, S., López, R.M., Gort, L., Argudo-Ramírez, A., Marín, J.L., González de Aledo-Castillo, J.M., García-Villoria, J., Arranz, J.A., Del Toro, M., Tort, F., Ugarteburu, O., Casellas, M.D., Fernán

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

Language:

english

File:

PDF, 856 KB

english, 2020

75

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

Ugarteburu, Olatz, Teresa Garcia-Silva, Maria, Aldamiz-Echevarria, Luis, Gort, Laura, Garcia-Villoria, Judit, Tort, Frederic, Ribes, Antonia

Journal:

Year:

2020

File:

PDF, 1.80 MB

2020