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L. Ozaez
L. Ozaez
Ciber
Compound heterozygosity
Lactic acidosis
Episodic ataxia
Muscular hypotonia
Point mutation
2
Papers
48
Citations
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2024
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Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
2010
Molecular Genetics and Metabolism
Carmen Fons
Angela Arias
Ángela Sempere
Póo P
M. Pineda
A. Mas
A. López-Sala
Judith García-Villoria
Ma Vilaseca
L. Ozaez
Montserrat Lluch
Rafael Artuch
Josep M. Campistol
Antonia Ribes
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Citations (24)
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome
2009
Journal of Inherited Metabolic Disease
Ester Quintana
Johannes A. Mayr
M. T. García Silva
Aida Font
M. A. Tortoledo
S. Moliner
L. Ozaez
Montserrat Lluch
Ana Cabello
J. R. Ricoy
Johannes Koch
Antonia Ribes
W. Sperl
Paz Briones
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Citations (24)
1